Canonical Allele Identifier: CA555658948

Gene:

Linked Data

• dbSNP Id: rs1198725916
• gnomAD v2: 4-149669449-A-G
• gnomAD v3: 4-148748297-A-G
• gnomAD v4: 4-148748297-A-G
• MyVariant Identifiers: chr4:g.149669449A>G (hg19) ; chr4:g.148748297A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.148748297A>G , CM000666.2:g.148748297A>G	GRCh38
NC_000004.11:g.149669449A>G , CM000666.1:g.149669449A>G	GRCh37
NC_000004.10:g.149888899A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001741441.1:n.1746-118460A>G