Canonical Allele Identifier: CA574382221

Gene:

Linked Data

• dbSNP Id: rs1221543148
• gnomAD v2: 7-46072579-G-A
• gnomAD v3: 7-46032981-G-A
• gnomAD v4: 7-46032981-G-A
• MyVariant Identifiers: chr7:g.46072579G>A (hg19) ; chr7:g.46032981G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.46032981G>A , CM000669.2:g.46032981G>A	GRCh38
NC_000007.13:g.46072579G>A , CM000669.1:g.46072579G>A	GRCh37
NC_000007.12:g.46039104G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001745203.1:n.1270-3637G>A