Canonical Allele Identifier: CA788850006

Gene:

Linked Data

• dbSNP Id: rs1341661461
• gnomAD v3: 4-148748378-C-G
• gnomAD v4: 4-148748378-C-G
• MyVariant Identifiers: chr4:g.149669530C>G (hg19) ; chr4:g.148748378C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.148748378C>G , CM000666.2:g.148748378C>G	GRCh38
NC_000004.11:g.149669530C>G , CM000666.1:g.149669530C>G	GRCh37
NC_000004.10:g.149888980C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001741441.1:n.1746-118379C>G