Canonical Allele Identifier: CA553112493

Gene:

Linked Data

• dbSNP Id: rs1450632615
• gnomAD v2: 4-100395407-A-C
• gnomAD v3: 4-99474250-A-C
• gnomAD v4: 4-99474250-A-C
• MyVariant Identifiers: chr4:g.100395407A>C (hg19) ; chr4:g.99474250A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99474250A>C , CM000666.2:g.99474250A>C	GRCh38
NC_000004.11:g.100395407A>C , CM000666.1:g.100395407A>C	GRCh37
NC_000004.10:g.100614430A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506494.1:n.243-2388T>G