Canonical Allele Identifier: CA203779
Gene: CHAT HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.49648606G>A
GRCh37 chr10:g.50856652G>A
Revel Score:
ENST00000339797 0.264
ENST00000351556 0.264
ENST00000395559 0.264
ENST00000337653 (MANE Select) 0.264
ENST00000395562 0.264
ENST00000455728 0.264
gnomAD v2:
10:50856652 G / A
gnomAD v3:
10:49648606 G / A
gnomAD v4:
chr10-49648606-G-A
Joint Max Group AF 0.99811228 (NFE)
Genomes Max Group AF 0.99323365 (NFE)
Exomes Max Group AF 0.99807307 (NFE)
ClinVar RCV:
RCV000180671
RCV000988358
ClinVar Variation:
199157
dbSNP:
4838544
JSON-LD

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
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