Canonical Allele Identifier: CA2651630638

Gene:

Linked Data

• gnomAD v4: 20-2470861-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2470861C>A , CM000682.2:g.2470861C>A	GRCh38
NC_000020.10:g.2451507C>A , CM000682.1:g.2451507C>A	GRCh37
NC_000020.9:g.2399507C>A	NCBI36
NG_042057.1:g.4993G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461548.1:c.305-3103G>T	ENSP00000456213.1:n.305-3103G>T