Canonical Allele Identifier: CA2643301099

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11790851-CTCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790853_11790855del , CM000663.2:g.11790853_11790855del	GRCh38
NC_000001.10:g.11850910_11850912del , CM000663.1:g.11850910_11850912del	GRCh37
NC_000001.9:g.11773497_11773499del	NCBI36
NG_013351.1:g.20250_20252del , LRG_726:g.20250_20252del

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1920_1922del	ENSP00000365770.1:p.Tyr640Ter
ENST00000376590.9:c.1797_1799del MANE Select	ENSP00000365775.3:p.Tyr599Ter
ENST00000376592.6:c.1797_1799del	ENSP00000365777.1:p.Tyr599Ter
ENST00000423400.7:c.1917_1919del	ENSP00000398908.3:p.Tyr639Ter
ENST00000641407.1:c.1753-138_1753-136del	ENSP00000493098.1:n.1753-138_1753-136del
ENST00000641446.1:c.*256_*258del	ENSP00000493262.1:n.*256_*258del
ENST00000641747.1:c.*1309_*1311del	ENSP00000493116.1:n.*1309_*1311del
ENST00000641759.1:n.2166_2168del
ENST00000641805.1:n.2270-138_2270-136del
ENST00000641820.1:c.1062_1064del	ENSP00000492937.1:p.Tyr354Ter
ENST00000376583.7:c.1920_1922del	ENSP00000365767.3:p.Tyr640Ter
ENST00000376585.5:c.1920_1922del	ENSP00000365770.1:p.Tyr640Ter
ENST00000376590.7:c.1797_1799del	ENSP00000365775.3:p.Tyr599Ter
ENST00000376592.5:c.1797_1799del	ENSP00000365777.1:p.Tyr599Ter
NM_005957.4:c.1797_1799del , LRG_726t1:c.1797_1799del	NP_005948.3:p.Tyr599Ter
XM_005263458.2:c.1920_1922del	XP_005263515.1:p.Tyr640Ter
XM_005263460.3:c.1797_1799del	XP_005263517.1:p.Tyr599Ter
XM_005263461.3:c.1797_1799del	XP_005263518.1:p.Tyr599Ter
XM_005263462.3:c.1797_1799del	XP_005263519.1:p.Tyr599Ter
XM_005263463.2:c.1551_1553del	XP_005263520.1:p.Tyr517Ter
XM_011541495.1:c.1917_1919del	XP_011539797.1:p.Tyr639Ter
XM_011541496.1:c.1876-138_1876-136del	XP_011539798.1:n.1876-138_1876-136del
NM_001330358.1:c.1920_1922del	NP_001317287.1:p.Tyr640Ter
XM_005263460.5:c.1797_1799del	XP_005263517.1:p.Tyr599Ter
XM_005263462.4:c.1797_1799del	XP_005263519.1:p.Tyr599Ter
XM_005263463.4:c.1551_1553del	XP_005263520.1:p.Tyr517Ter
XM_011541495.3:c.1917_1919del	XP_011539797.1:p.Tyr639Ter
XM_011541496.3:c.1876-138_1876-136del	XP_011539798.1:n.1876-138_1876-136del
XM_017001328.2:c.1876-106_1876-104del	XP_016856817.1:n.1876-106_1876-104del
XM_024447198.1:c.1551_1553del	XP_024302966.1:p.Tyr517Ter
XR_002956640.1:n.2854-138_2854-136del
NM_005957.5:c.1797_1799del MANE Select	NP_005948.3:p.Tyr599Ter
NM_001330358.2:c.1920_1922del	NP_001317287.1:p.Tyr640Ter