Canonical Allele Identifier: CA1014783639

Gene:

Linked Data

• dbSNP Id: rs2085111593
• gnomAD v3: 20-2470936-C-T
• gnomAD v4: 20-2470936-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2470936C>T , CM000682.2:g.2470936C>T	GRCh38
NC_000020.10:g.2451582C>T , CM000682.1:g.2451582C>T	GRCh37
NC_000020.9:g.2399582C>T	NCBI36
NG_042057.1:g.4918G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461548.1:c.305-3178G>A	ENSP00000456213.1:n.305-3178G>A