Canonical Allele Identifier: CA376742881

Gene: CHAT

Linked Data

• ClinVar Variation Id: 1406810
• ClinVar RCV Id: RCV001916006
• dbSNP Id: rs4838544
• gnomAD v2: 10-50856652-G-T
• gnomAD v3: 10-49648606-G-T
• gnomAD v4: 10-49648606-G-T
• MyVariant Identifiers: chr10:g.50856652G>T (hg19) ; chr10:g.49648606G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337653.7:c.1381G>T MANE Select	ENSP00000337103.2:p.Val461Leu
ENST00000638282.1:c.*218G>T	ENSP00000492646.1:n.*218G>T
ENST00000640822.1:c.244G>T	ENSP00000491328.1:p.Val82Leu
ENST00000337653.6:c.1381G>T	ENSP00000337103.2:p.Val461Leu
ENST00000339797.5:c.1027G>T	ENSP00000343486.1:p.Val343Leu
ENST00000351556.7:c.1027G>T	ENSP00000345878.3:p.Val343Leu
ENST00000395559.6:c.1027G>T	ENSP00000378926.2:p.Val343Leu
ENST00000395562.2:c.1135G>T	ENSP00000378929.2:p.Val379Leu
ENST00000466590.6:c.*1112G>T	ENSP00000473443.1:n.*1112G>T
NM_001142929.2:c.1027G>T	NP_001136401.2:p.Val343Leu
NM_001142933.2:c.1135G>T	NP_001136405.2:p.Val379Leu
NM_001142934.2:c.1027G>T	NP_001136406.2:p.Val343Leu
NM_020549.5:c.1381G>T MANE Select	NP_065574.4:p.Val461Leu
NM_020984.4:c.1027G>T	NP_066264.4:p.Val343Leu
NM_020985.4:c.1027G>T	NP_066265.4:p.Val343Leu
NM_020986.4:c.1027G>T	NP_066266.4:p.Val343Leu