Canonical Allele Identifier: CA103381296

Gene:

Linked Data

• dbSNP Id: rs532281374
• gnomAD v3: 4-105542644-C-T
• gnomAD v4: 4-105542644-C-T
• MyVariant Identifiers: chr4:g.106463801C>T (hg19) ; chr4:g.105542644C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.105542644C>T , CM000666.2:g.105542644C>T	GRCh38
NC_000004.11:g.106463801C>T , CM000666.1:g.106463801C>T	GRCh37
NC_000004.10:g.106683250C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939038.1:n.361G>A
XR_939039.1:n.521G>A
XR_939040.1:n.296-1168G>A
XR_001741410.1:n.376G>A
XR_001741411.1:n.852G>A
XR_001741412.1:n.376G>A
XR_001741413.1:n.376G>A
XR_001741414.1:n.376G>A
XR_939038.2:n.376G>A
XR_939040.2:n.311-1168G>A