Canonical Allele Identifier: CA440675924

Gene:

Linked Data

• dbSNP Id: rs997609526
• gnomAD v3: 4-105542625-C-A
• gnomAD v4: 4-105542625-C-A
• MyVariant Identifiers: chr4:g.106463782C>A (hg19) ; chr4:g.105542625C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.105542625C>A , CM000666.2:g.105542625C>A	GRCh38
NC_000004.11:g.106463782C>A , CM000666.1:g.106463782C>A	GRCh37
NC_000004.10:g.106683231C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939038.1:n.380G>T
XR_939039.1:n.540G>T
XR_939040.1:n.296-1149G>T
XR_001741410.1:n.395G>T
XR_001741411.1:n.871G>T
XR_001741412.1:n.395G>T
XR_001741413.1:n.395G>T
XR_001741414.1:n.395G>T
XR_939038.2:n.395G>T
XR_939040.2:n.311-1149G>T