Canonical Allele Identifier: CA102638071

Gene:

Linked Data

• dbSNP Id: rs547075750
• gnomAD v3: 4-99474274-T-C
• gnomAD v4: 4-99474274-T-C
• MyVariant Identifiers: chr4:g.100395431T>C (hg19) ; chr4:g.99474274T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99474274T>C , CM000666.2:g.99474274T>C	GRCh38
NC_000004.11:g.100395431T>C , CM000666.1:g.100395431T>C	GRCh37
NC_000004.10:g.100614454T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000506494.1:n.243-2412A>G