Canonical Allele Identifier: CA555658960

Gene:

Linked Data

• dbSNP Id: rs1390513309
• gnomAD v2: 4-149669544-C-A
• gnomAD v3: 4-148748392-C-A
• gnomAD v4: 4-148748392-C-A
• MyVariant Identifiers: chr4:g.149669544C>A (hg19) ; chr4:g.148748392C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.148748392C>A , CM000666.2:g.148748392C>A	GRCh38
NC_000004.11:g.149669544C>A , CM000666.1:g.149669544C>A	GRCh37
NC_000004.10:g.149888994C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001741441.1:n.1746-118365C>A