Canonical Allele Identifier: CA102638085

Gene:

Linked Data

• dbSNP Id: rs949712248
• gnomAD v2: 4-100395468-G-A
• gnomAD v3: 4-99474311-G-A
• gnomAD v4: 4-99474311-G-A
• MyVariant Identifiers: chr4:g.100395468G>A (hg19) ; chr4:g.99474311G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99474311G>A , CM000666.2:g.99474311G>A	GRCh38
NC_000004.11:g.100395468G>A , CM000666.1:g.100395468G>A	GRCh37
NC_000004.10:g.100614491G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506494.1:n.242+2437C>T