Canonical Allele Identifier: CA997624783

Gene:

Linked Data

• dbSNP Id: rs1638455371
• gnomAD v3: 1-817243-A-T
• gnomAD v4: 1-817243-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.817243A>T , CM000663.2:g.817243A>T	GRCh38
NC_000001.10:g.752623A>T , CM000663.1:g.752623A>T	GRCh37
NC_000001.9:g.742486A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634337.2:n.127+10427T>A
ENST00000635509.2:n.100+10427T>A
ENST00000447500.4:n.340+130T>A