Canonical Allele Identifier: CA924610249

Gene:

Linked Data

• dbSNP Id: rs758220563
• gnomAD v3: 10-7047056-G-T
• gnomAD v4: 10-7047056-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.7047056G>T , CM000672.2:g.7047056G>T	GRCh38
NC_000010.10:g.7089018G>T , CM000672.1:g.7089018G>T	GRCh37
NC_000010.9:g.7129024G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_930623.1:n.173-16739C>A
XR_930624.1:n.171-16739C>A
XR_930625.1:n.172-16739C>A
XR_930626.1:n.168-16739C>A
XR_930627.1:n.173-16739C>A
XR_001747351.1:n.364-16739C>A
XR_001747352.1:n.364-16739C>A
XR_001747353.1:n.188-34400C>A
XR_001747354.1:n.364-16739C>A
XR_930623.2:n.364-16739C>A
XR_930624.2:n.364-16739C>A
XR_930625.2:n.364-16739C>A
XR_930626.2:n.364-16739C>A
XR_930627.2:n.364-16739C>A