Canonical Allele Identifier: CA102638078

Gene:

Linked Data

• dbSNP Id: rs1022980531
• MyVariant Identifiers: chr4:g.100395453G>C (hg19) ; chr4:g.99474296G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99474296G>C , CM000666.2:g.99474296G>C	GRCh38
NC_000004.11:g.100395453G>C , CM000666.1:g.100395453G>C	GRCh37
NC_000004.10:g.100614476G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506494.1:n.243-2434C>G