Canonical Allele Identifier: CA10607661

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 292224
• ClinVar RCV Id: RCV000313987
• dbSNP Id: rs886045191
• gnomAD v2: 1-11850367-T-TAAG
• gnomAD v3: 1-11790310-T-TAAG
• gnomAD v4: 1-11790310-T-TAAG
• MyVariant Identifiers: chr1:g.11850368_11850370dupAAG (hg19) ; chr1:g.11850367_11850368insAAG (hg19) ; chr1:g.11790311_11790313dupAAG (hg38) ; chr1:g.11790310_11790311insAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790311_11790313dup , CM000663.2:g.11790311_11790313dup	GRCh38
NC_000001.10:g.11850368_11850370dup , CM000663.1:g.11850368_11850370dup	GRCh37
NC_000001.9:g.11772955_11772957dup	NCBI36
NG_013351.1:g.20791_20793dup , LRG_726:g.20791_20793dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.*367_*369dup	ENSP00000365770.1:n.*367_*369dup
ENST00000376590.9:c.*367_*369dup MANE Select	ENSP00000365775.3:n.*367_*369dup
ENST00000376592.6:c.*367_*369dup	ENSP00000365777.1:n.*367_*369dup
ENST00000423400.7:c.*367_*369dup	ENSP00000398908.3:n.*367_*369dup
ENST00000641446.1:c.*797_*799dup	ENSP00000493262.1:n.*797_*799dup
ENST00000641747.1:c.*1850_*1852dup	ENSP00000493116.1:n.*1850_*1852dup
ENST00000641805.1:n.2673_2675dup
ENST00000376583.7:c.2461_2463dup	ENSP00000365767.3:n.2461_2463dup
ENST00000376585.5:c.*367_*369dup	ENSP00000365770.1:n.*367_*369dup
ENST00000376590.7:c.*367_*369dup	ENSP00000365775.3:n.*367_*369dup
ENST00000376592.5:c.*367_*369dup	ENSP00000365777.1:n.*367_*369dup
NM_005957.4:c.*367_*369dup , LRG_726t1:c.*367_*369dup	NP_005948.3:n.*367_*369dup
XM_005263458.2:c.*367_*369dup	XP_005263515.1:n.*367_*369dup
XM_005263460.3:c.*367_*369dup	XP_005263517.1:n.*367_*369dup
XM_005263461.3:c.*367_*369dup	XP_005263518.1:n.*367_*369dup
XM_005263462.3:c.*367_*369dup	XP_005263519.1:n.*367_*369dup
XM_005263463.2:c.*367_*369dup	XP_005263520.1:n.*367_*369dup
XM_011541495.1:c.*367_*369dup	XP_011539797.1:n.*367_*369dup
XM_011541496.1:c.*227_*229dup	XP_011539798.1:n.*227_*229dup
NM_001330358.1:c.*367_*369dup	NP_001317287.1:n.*367_*369dup
XM_005263460.5:c.*367_*369dup	XP_005263517.1:n.*367_*369dup
XM_005263462.4:c.*367_*369dup	XP_005263519.1:n.*367_*369dup
XM_005263463.4:c.*367_*369dup	XP_005263520.1:n.*367_*369dup
XM_011541495.3:c.*367_*369dup	XP_011539797.1:n.*367_*369dup
XM_011541496.3:c.*227_*229dup	XP_011539798.1:n.*227_*229dup
XM_024447198.1:c.*367_*369dup	XP_024302966.1:n.*367_*369dup
NM_005957.5:c.*367_*369dup MANE Select	NP_005948.3:n.*367_*369dup
NM_001330358.2:c.*367_*369dup	NP_001317287.1:n.*367_*369dup