Canonical Allele Identifier: CA338470248

Gene: C1orf167 MTHFR

Linked Data

• gnomAD v4: 1-11788250-T-C
• MyVariant Identifiers: chr1:g.11848307T>C (hg19) ; chr1:g.11788250T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11788250T>C , CM000663.2:g.11788250T>C	GRCh38
NC_000001.10:g.11848307T>C , CM000663.1:g.11848307T>C	GRCh37
NC_000001.9:g.11770894T>C	NCBI36
NG_013351.1:g.22854A>G , LRG_726:g.22854A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433342.6:c.3449T>C (C1orf167)	ENSP00000414909.3:p.Val1150Ala
ENST00000688073.1:c.3950T>C (C1orf167) MANE Select	ENSP00000510540.1:p.Val1317Ala
ENST00000376585.6:c.*2430A>G (MTHFR)	ENSP00000365770.1:n.*2430A>G
ENST00000376590.9:c.*2430A>G (MTHFR) MANE Select	ENSP00000365775.3:n.*2430A>G
ENST00000376592.6:c.*2430A>G (MTHFR)	ENSP00000365777.1:n.*2430A>G
ENST00000312793.9:c.2085T>C (C1orf167)
ENST00000376583.7:c.4524A>G (MTHFR)	ENSP00000365767.3:n.4524A>G
ENST00000376590.7:c.*2430A>G (MTHFR)	ENSP00000365775.3:n.*2430A>G
ENST00000376592.5:c.*2430A>G (MTHFR)	ENSP00000365777.1:n.*2430A>G
ENST00000433342.5:c.4007T>C (C1orf167)	ENSP00000414909.2:p.Val1336Ala
ENST00000444493.5:c.1449T>C (C1orf167)
ENST00000449278.1:c.1185T>C (C1orf167)
ENST00000482358.1:n.244T>C (C1orf167)
NM_001010881.1:c.3950T>C (C1orf167)	NP_001010881.1:p.Val1317Ala
NM_005957.4:c.*2430A>G , LRG_726t1:c.*2430A>G (MTHFR)	NP_005948.3:n.*2430A>G
XM_006711078.2:c.3950T>C (C1orf167)	XP_006711141.1:p.Val1317Ala
XM_011541267.1:c.4085T>C (C1orf167)	XP_011539569.1:p.Val1362Ala
XM_011541268.1:c.4085T>C (C1orf167)	XP_011539570.1:p.Val1362Ala
XM_011541269.1:c.4085T>C (C1orf167)	XP_011539571.1:p.Val1362Ala
XM_011541270.1:c.4085T>C (C1orf167)	XP_011539572.1:p.Val1362Ala
XM_011541271.1:c.4031T>C (C1orf167)	XP_011539573.1:p.Val1344Ala
XM_011541272.1:c.4085T>C (C1orf167)	XP_011539574.1:p.Val1362Ala
XM_011541273.1:c.3950T>C (C1orf167)	XP_011539575.1:p.Val1317Ala
XM_011541274.1:c.3950T>C (C1orf167)	XP_011539576.1:p.Val1317Ala
XM_011541275.1:c.3950T>C (C1orf167)	XP_011539577.1:p.Val1317Ala
XM_011541276.1:c.3991T>C (C1orf167)	XP_011539578.1:p.Tyr1331His
XM_011541277.1:c.3991T>C (C1orf167)	XP_011539579.1:p.Tyr1331His
XM_011541278.1:c.4085T>C (C1orf167)	XP_011539580.1:p.Val1362Ala
XM_011541279.1:c.3677T>C (C1orf167)	XP_011539581.1:p.Val1226Ala
XM_011541280.1:c.2366T>C (C1orf167)	XP_011539582.1:p.Val789Ala
XM_011541281.1:c.2366T>C (C1orf167)	XP_011539583.1:p.Val789Ala
NM_001330358.1:c.*2430A>G (MTHFR)	NP_001317287.1:n.*2430A>G
XM_011541272.3:c.4085T>C (C1orf167)	XP_011539574.1:p.Val1362Ala
XM_011541276.3:c.3991T>C (C1orf167)	XP_011539578.1:p.Tyr1331His
XM_011541277.3:c.3991T>C (C1orf167)	XP_011539579.1:p.Tyr1331His
XM_011541278.2:c.4085T>C (C1orf167)	XP_011539580.1:p.Val1362Ala
XM_024446506.1:c.4085T>C (C1orf167)	XP_024302274.1:p.Val1362Ala
XM_024446507.1:c.4085T>C (C1orf167)	XP_024302275.1:p.Val1362Ala
XM_024446508.1:c.4085T>C (C1orf167)	XP_024302276.1:p.Val1362Ala
XM_024446509.1:c.4085T>C (C1orf167)	XP_024302277.1:p.Val1362Ala
XM_024446512.1:c.4031T>C (C1orf167)	XP_024302280.1:p.Val1344Ala
XM_024446514.1:c.3950T>C (C1orf167)	XP_024302282.1:p.Val1317Ala
XM_024446515.1:c.3950T>C (C1orf167)	XP_024302283.1:p.Val1317Ala
XM_024446517.1:c.3950T>C (C1orf167)	XP_024302285.1:p.Val1317Ala
XM_024446518.1:c.2366T>C (C1orf167)	XP_024302286.1:p.Val789Ala
NM_001010881.2:c.3950T>C (C1orf167) MANE Select	NP_001010881.1:p.Val1317Ala
NM_005957.5:c.*2430A>G (MTHFR) MANE Select	NP_005948.3:n.*2430A>G
NM_001330358.2:c.*2430A>G (MTHFR)	NP_001317287.1:n.*2430A>G