Canonical Allele Identifier: CA1066321231

Gene:

Linked Data

• dbSNP Id: rs1724786772
• gnomAD v3: 4-105542848-T-C
• gnomAD v4: 4-105542848-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.105542848T>C , CM000666.2:g.105542848T>C	GRCh38
NC_000004.11:g.106464005T>C , CM000666.1:g.106464005T>C	GRCh37
NC_000004.10:g.106683454T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939038.1:n.296-139A>G
XR_939039.1:n.456-139A>G
XR_939040.1:n.296-1372A>G
XR_001741410.1:n.311-139A>G
XR_001741411.1:n.787-139A>G
XR_001741412.1:n.311-139A>G
XR_001741413.1:n.311-139A>G
XR_001741414.1:n.311-139A>G
XR_939038.2:n.311-139A>G
XR_939040.2:n.311-1372A>G