Canonical Allele Identifier: CA585055317

Gene:

Linked Data

• dbSNP Id: rs1462456527
• gnomAD v2: 8-128024848-G-C
• gnomAD v3: 8-127012603-G-C
• gnomAD v4: 8-127012603-G-C
• MyVariant Identifiers: chr8:g.128024848G>C (hg19) ; chr8:g.127012603G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127012603G>C , CM000670.2:g.127012603G>C	GRCh38
NC_000008.10:g.128024848G>C , CM000670.1:g.128024848G>C	GRCh37
NC_000008.9:g.128094030G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746076.2:n.1364+5985G>C