Canonical Allele Identifier: CA440675819

Gene:

Linked Data

• dbSNP Id: rs1405108922
• gnomAD v2: 4-106463746-T-A
• gnomAD v3: 4-105542589-T-A
• gnomAD v4: 4-105542589-T-A
• MyVariant Identifiers: chr4:g.106463746T>A (hg19) ; chr4:g.105542589T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.105542589T>A , CM000666.2:g.105542589T>A	GRCh38
NC_000004.11:g.106463746T>A , CM000666.1:g.106463746T>A	GRCh37
NC_000004.10:g.106683195T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939038.1:n.416A>T
XR_939039.1:n.576A>T
XR_939040.1:n.296-1113A>T
XR_001741410.1:n.431A>T
XR_001741411.1:n.907A>T
XR_001741412.1:n.431A>T
XR_001741413.1:n.431A>T
XR_001741414.1:n.431A>T
XR_939038.2:n.431A>T
XR_939040.2:n.311-1113A>T