Canonical Allele Identifier: CA102638048

Gene:

Linked Data

• dbSNP Id: rs903374963
• gnomAD v3: 4-99474255-A-G
• gnomAD v4: 4-99474255-A-G
• MyVariant Identifiers: chr4:g.100395412A>G (hg19) ; chr4:g.99474255A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99474255A>G , CM000666.2:g.99474255A>G	GRCh38
NC_000004.11:g.100395412A>G , CM000666.1:g.100395412A>G	GRCh37
NC_000004.10:g.100614435A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506494.1:n.243-2393T>C