Canonical Allele Identifier: CA120443658

Gene:

Linked Data

• dbSNP Id: rs952433541
• gnomAD v3: 5-66487948-G-C
• gnomAD v4: 5-66487948-G-C
• MyVariant Identifiers: chr5:g.65783776G>C (hg19) ; chr5:g.66487948G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.66487948G>C , CM000667.2:g.66487948G>C	GRCh38
NC_000005.9:g.65783776G>C , CM000667.1:g.65783776G>C	GRCh37
NC_000005.8:g.65819532G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_948381.1:n.649-48888G>C