Canonical Allele Identifier: CA800736769

Gene:

Linked Data

• dbSNP Id: rs1375016494
• MyVariant Identifiers: chr4:g.100395398A>G (hg19) ; chr4:g.99474241A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99474241A>G , CM000666.2:g.99474241A>G	GRCh38
NC_000004.11:g.100395398A>G , CM000666.1:g.100395398A>G	GRCh37
NC_000004.10:g.100614421A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506494.1:n.243-2379T>C