Canonical Allele Identifier: CA553112491

Gene:

Linked Data

• dbSNP Id: rs1290756439
• gnomAD v2: 4-100395350-T-G
• gnomAD v3: 4-99474193-T-G
• gnomAD v4: 4-99474193-T-G
• MyVariant Identifiers: chr4:g.100395350T>G (hg19) ; chr4:g.99474193T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99474193T>G , CM000666.2:g.99474193T>G	GRCh38
NC_000004.11:g.100395350T>G , CM000666.1:g.100395350T>G	GRCh37
NC_000004.10:g.100614373T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506494.1:n.243-2331A>C