Canonical Allele Identifier: CA2742479641

Gene: MTHFR C1orf167

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790139G>T , CM000663.2:g.11790139G>T	GRCh38
NC_000001.10:g.11850196G>T , CM000663.1:g.11850196G>T	GRCh37
NC_000001.9:g.11772783G>T	NCBI36
NG_013351.1:g.20965C>A , LRG_726:g.20965C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.*541C>A (MTHFR)	ENSP00000365770.1:n.*541C>A
ENST00000376590.9:c.*541C>A (MTHFR) MANE Select	ENSP00000365775.3:n.*541C>A
ENST00000376592.6:c.*541C>A (MTHFR)	ENSP00000365777.1:n.*541C>A
ENST00000423400.7:c.*541C>A (MTHFR)	ENSP00000398908.3:n.*541C>A
ENST00000641446.1:c.*971C>A (MTHFR)	ENSP00000493262.1:n.*971C>A
ENST00000641747.1:c.*2024C>A (MTHFR)	ENSP00000493116.1:n.*2024C>A
ENST00000641805.1:n.2847C>A (MTHFR)
ENST00000376583.7:c.2635C>A (MTHFR)	ENSP00000365767.3:n.2635C>A
ENST00000376585.5:c.*541C>A (MTHFR)	ENSP00000365770.1:n.*541C>A
ENST00000376590.7:c.*541C>A (MTHFR)	ENSP00000365775.3:n.*541C>A
ENST00000376592.5:c.*541C>A (MTHFR)	ENSP00000365777.1:n.*541C>A
NM_005957.4:c.*541C>A , LRG_726t1:c.*541C>A (MTHFR)	NP_005948.3:n.*541C>A
XM_005263458.2:c.*541C>A (MTHFR)	XP_005263515.1:n.*541C>A
XM_005263460.3:c.*541C>A (MTHFR)	XP_005263517.1:n.*541C>A
XM_005263461.3:c.*541C>A (MTHFR)	XP_005263518.1:n.*541C>A
XM_005263462.3:c.*541C>A (MTHFR)	XP_005263519.1:n.*541C>A
XM_005263463.2:c.*541C>A (MTHFR)	XP_005263520.1:n.*541C>A
XM_011541495.1:c.*541C>A (MTHFR)	XP_011539797.1:n.*541C>A
XM_011541496.1:c.*401C>A (MTHFR)	XP_011539798.1:n.*401C>A
NM_001330358.1:c.*541C>A (MTHFR)	NP_001317287.1:n.*541C>A
XM_005263460.5:c.*541C>A (MTHFR)	XP_005263517.1:n.*541C>A
XM_005263462.4:c.*541C>A (MTHFR)	XP_005263519.1:n.*541C>A
XM_005263463.4:c.*541C>A (MTHFR)	XP_005263520.1:n.*541C>A
XM_011541272.3:c.*693G>T (C1orf167)	XP_011539574.1:n.*693G>T
XM_011541276.3:c.*680G>T (C1orf167)	XP_011539578.1:n.*680G>T
XM_011541277.3:c.*693G>T (C1orf167)	XP_011539579.1:n.*693G>T
XM_011541495.3:c.*541C>A (MTHFR)	XP_011539797.1:n.*541C>A
XM_011541496.3:c.*401C>A (MTHFR)	XP_011539798.1:n.*401C>A
XM_024446506.1:c.*1096G>T (C1orf167)	XP_024302274.1:n.*1096G>T
XM_024446507.1:c.*1096G>T (C1orf167)	XP_024302275.1:n.*1096G>T
XM_024446508.1:c.*1096G>T (C1orf167)	XP_024302276.1:n.*1096G>T
XM_024446509.1:c.*1096G>T (C1orf167)	XP_024302277.1:n.*1096G>T
XM_024446512.1:c.*1096G>T (C1orf167)	XP_024302280.1:n.*1096G>T
XM_024446514.1:c.*1096G>T (C1orf167)	XP_024302282.1:n.*1096G>T
XM_024446515.1:c.*1096G>T (C1orf167)	XP_024302283.1:n.*1096G>T
XM_024446517.1:c.*1096G>T (C1orf167)	XP_024302285.1:n.*1096G>T
XM_024446518.1:c.*1096G>T (C1orf167)	XP_024302286.1:n.*1096G>T
XM_024447198.1:c.*541C>A (MTHFR)	XP_024302966.1:n.*541C>A
NM_005957.5:c.*541C>A (MTHFR) MANE Select	NP_005948.3:n.*541C>A
NM_001330358.2:c.*541C>A (MTHFR)	NP_001317287.1:n.*541C>A