Canonical Allele Identifier: CA416362370

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 2727475
• ClinVar RCV Id: RCV003524914
• gnomAD v4: 1-11795160-G-C
• MyVariant Identifiers: chr1:g.11855217G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11795160G>C , CM000663.2:g.11795160G>C	GRCh38
NC_000001.10:g.11855217G>C , CM000663.1:g.11855217G>C	GRCh37
NC_000001.9:g.11777804G>C	NCBI36
NG_013351.1:g.15944C>G , LRG_726:g.15944C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1092C>G	ENSP00000365770.1:p.Leu364=
ENST00000376590.9:c.969C>G MANE Select	ENSP00000365775.3:p.Leu323=
ENST00000376592.6:c.969C>G	ENSP00000365777.1:p.Leu323=
ENST00000423400.7:c.1089C>G	ENSP00000398908.3:p.Leu363=
ENST00000641407.1:c.969C>G	ENSP00000493098.1:p.Leu323=
ENST00000641446.1:c.969C>G	ENSP00000493262.1:p.Leu323=
ENST00000641721.1:n.832C>G
ENST00000641747.1:c.*481C>G	ENSP00000493116.1:n.*481C>G
ENST00000641759.1:n.1104C>G
ENST00000641805.1:n.1252C>G
ENST00000641820.1:c.234C>G	ENSP00000492937.1:p.Leu78=
ENST00000376583.7:c.1092C>G	ENSP00000365767.3:p.Leu364=
ENST00000376585.5:c.1092C>G	ENSP00000365770.1:p.Leu364=
ENST00000376590.7:c.969C>G	ENSP00000365775.3:p.Leu323=
ENST00000376592.5:c.969C>G	ENSP00000365777.1:p.Leu323=
NM_005957.4:c.969C>G , LRG_726t1:c.969C>G	NP_005948.3:p.Leu323=
XM_005263458.2:c.1092C>G	XP_005263515.1:p.Leu364=
XM_005263460.3:c.969C>G	XP_005263517.1:p.Leu323=
XM_005263461.3:c.969C>G	XP_005263518.1:p.Leu323=
XM_005263462.3:c.969C>G	XP_005263519.1:p.Leu323=
XM_005263463.2:c.723C>G	XP_005263520.1:p.Leu241=
XM_011541495.1:c.1089C>G	XP_011539797.1:p.Leu363=
XM_011541496.1:c.1092C>G	XP_011539798.1:p.Leu364=
NM_001330358.1:c.1092C>G	NP_001317287.1:p.Leu364=
XM_005263460.5:c.969C>G	XP_005263517.1:p.Leu323=
XM_005263462.4:c.969C>G	XP_005263519.1:p.Leu323=
XM_005263463.4:c.723C>G	XP_005263520.1:p.Leu241=
XM_011541495.3:c.1089C>G	XP_011539797.1:p.Leu363=
XM_011541496.3:c.1092C>G	XP_011539798.1:p.Leu364=
XM_017001328.2:c.1092C>G	XP_016856817.1:p.Leu364=
XM_024447198.1:c.723C>G	XP_024302966.1:p.Leu241=
XR_002956640.1:n.1836C>G
NM_005957.5:c.969C>G MANE Select	NP_005948.3:p.Leu323=
NM_001330358.2:c.1092C>G	NP_001317287.1:p.Leu364=