Canonical Allele Identifier: CA203779

Gene: CHAT

Linked Data

• ClinVar Variation Id: 199157
• ClinVar RCV Id: RCV000180671 ; RCV000988358
• dbSNP Id: rs4838544
• ExAC: 10:50856652 G / A
• gnomAD v2: 10-50856652-G-A
• gnomAD v3: 10-49648606-G-A
• gnomAD v4: 10-49648606-G-A
• MyVariant Identifiers: chr10:g.50856652G>A (hg19) ; chr10:g.49648606G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49648606G>A , CM000672.2:g.49648606G>A	GRCh38
NC_000010.10:g.50856652G>A , CM000672.1:g.50856652G>A	GRCh37
NC_000010.9:g.50526658G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000337653.7:c.1381G>A MANE Select	ENSP00000337103.2:p.Val461Met
ENST00000638282.1:c.*218G>A	ENSP00000492646.1:n.*218G>A
ENST00000640822.1:c.244G>A	ENSP00000491328.1:p.Val82Met
ENST00000337653.6:c.1381G>A	ENSP00000337103.2:p.Val461Met
ENST00000339797.5:c.1027G>A	ENSP00000343486.1:p.Val343Met
ENST00000351556.7:c.1027G>A	ENSP00000345878.3:p.Val343Met
ENST00000395559.6:c.1027G>A	ENSP00000378926.2:p.Val343Met
ENST00000395562.2:c.1135G>A	ENSP00000378929.2:p.Val379Met
ENST00000466590.6:c.*1112G>A	ENSP00000473443.1:n.*1112G>A
NM_001142929.2:c.1027G>A	NP_001136401.2:p.Val343Met
NM_001142933.2:c.1135G>A	NP_001136405.2:p.Val379Met
NM_001142934.2:c.1027G>A	NP_001136406.2:p.Val343Met
NM_020549.5:c.1381G>A MANE Select	NP_065574.4:p.Val461Met
NM_020984.4:c.1027G>A	NP_066264.4:p.Val343Met
NM_020985.4:c.1027G>A	NP_066265.4:p.Val343Met
NM_020986.4:c.1027G>A	NP_066266.4:p.Val343Met