Canonical Allele Identifier: CA555658963

Gene:

Linked Data

• dbSNP Id: rs1385028030
• gnomAD v2: 4-149669548-A-G
• gnomAD v3: 4-148748396-A-G
• gnomAD v4: 4-148748396-A-G
• MyVariant Identifiers: chr4:g.149669548A>G (hg19) ; chr4:g.148748396A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.148748396A>G , CM000666.2:g.148748396A>G	GRCh38
NC_000004.11:g.149669548A>G , CM000666.1:g.149669548A>G	GRCh37
NC_000004.10:g.149888998A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001741441.1:n.1746-118361A>G