Canonical Allele Identifier: CA185200369

Gene:

Linked Data

• dbSNP Id: rs774524271
• gnomAD v3: 8-122395658-T-C
• gnomAD v4: 8-122395658-T-C
• MyVariant Identifiers: chr8:g.123407897T>C (hg19) ; chr8:g.122395658T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.122395658T>C , CM000670.2:g.122395658T>C	GRCh38
NC_000008.10:g.123407897T>C , CM000670.1:g.123407897T>C	GRCh37
NC_000008.9:g.123477078T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928599.1:n.152+3514A>G
XR_928599.3:n.152+3514A>G