Canonical Allele Identifier: CA784842269

Gene:

Linked Data

• dbSNP Id: rs1318131490
• gnomAD v3: 4-105542529-T-C
• gnomAD v4: 4-105542529-T-C
• MyVariant Identifiers: chr4:g.106463686T>C (hg19) ; chr4:g.105542529T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.105542529T>C , CM000666.2:g.105542529T>C	GRCh38
NC_000004.11:g.106463686T>C , CM000666.1:g.106463686T>C	GRCh37
NC_000004.10:g.106683135T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939038.1:n.476A>G
XR_939039.1:n.636A>G
XR_939040.1:n.296-1053A>G
XR_001741410.1:n.491A>G
XR_001741411.1:n.967A>G
XR_001741412.1:n.449+42A>G
XR_001741413.1:n.491A>G
XR_001741414.1:n.449+42A>G
XR_939038.2:n.491A>G
XR_939040.2:n.311-1053A>G