Canonical Allele Identifier: CA800736768

Gene:

Linked Data

• dbSNP Id: rs1413080459
• MyVariant Identifiers: chr4:g.100395397G>C (hg19) ; chr4:g.99474240G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99474240G>C , CM000666.2:g.99474240G>C	GRCh38
NC_000004.11:g.100395397G>C , CM000666.1:g.100395397G>C	GRCh37
NC_000004.10:g.100614420G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506494.1:n.243-2378C>G