Canonical Allele Identifier: CA788850055

Gene:

Linked Data

• dbSNP Id: rs1288298527
• gnomAD v3: 4-148748471-A-G
• gnomAD v4: 4-148748471-A-G
• MyVariant Identifiers: chr4:g.149669623A>G (hg19) ; chr4:g.148748471A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.148748471A>G , CM000666.2:g.148748471A>G	GRCh38
NC_000004.11:g.149669623A>G , CM000666.1:g.149669623A>G	GRCh37
NC_000004.10:g.149889073A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001741441.1:n.1746-118286A>G