Canonical Allele Identifier: CA440675863

Gene:

Linked Data

• dbSNP Id: rs902121447
• gnomAD v3: 4-105542604-G-T
• gnomAD v4: 4-105542604-G-T
• MyVariant Identifiers: chr4:g.106463761G>T (hg19) ; chr4:g.105542604G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.105542604G>T , CM000666.2:g.105542604G>T	GRCh38
NC_000004.11:g.106463761G>T , CM000666.1:g.106463761G>T	GRCh37
NC_000004.10:g.106683210G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939038.1:n.401C>A
XR_939039.1:n.561C>A
XR_939040.1:n.296-1128C>A
XR_001741410.1:n.416C>A
XR_001741411.1:n.892C>A
XR_001741412.1:n.416C>A
XR_001741413.1:n.416C>A
XR_001741414.1:n.416C>A
XR_939038.2:n.416C>A
XR_939040.2:n.311-1128C>A