Canonical Allele Identifier: CA960867036

Gene:

Linked Data

• dbSNP Id: rs894919038
• gnomAD v3: 14-20793505-C-T
• gnomAD v4: 14-20793505-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20793505C>T , CM000676.2:g.20793505C>T	GRCh38
NC_000014.8:g.21261664C>T , CM000676.1:g.21261664C>T	GRCh37
NC_000014.7:g.20331504C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_943584.1:n.585+719C>T
XR_943585.1:n.585+719C>T
XR_001750620.1:n.3271+719C>T
XR_001750621.1:n.3271+719C>T
XR_001750622.1:n.637+6399G>A
XR_001750623.1:n.637+6399G>A
XR_001750624.1:n.637+6399G>A