Canonical Allele Identifier: CA585055312

Gene:

Linked Data

• dbSNP Id: rs1429629087
• gnomAD v2: 8-128024828-A-C
• gnomAD v3: 8-127012583-A-C
• gnomAD v4: 8-127012583-A-C
• MyVariant Identifiers: chr8:g.128024828A>C (hg19) ; chr8:g.127012583A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127012583A>C , CM000670.2:g.127012583A>C	GRCh38
NC_000008.10:g.128024828A>C , CM000670.1:g.128024828A>C	GRCh37
NC_000008.9:g.128094010A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001746076.2:n.1364+5965A>C