Canonical Allele Identifier: CA1014783651

Gene:

Linked Data

• dbSNP Id: rs1207457706
• gnomAD v3: 20-2470966-C-A
• gnomAD v4: 20-2470966-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2470966C>A , CM000682.2:g.2470966C>A	GRCh38
NC_000020.10:g.2451612C>A , CM000682.1:g.2451612C>A	GRCh37
NC_000020.9:g.2399612C>A	NCBI36
NG_042057.1:g.4888G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461548.1:c.305-3208G>T	ENSP00000456213.1:n.305-3208G>T