Canonical Allele Identifier: CA103381283

Gene:

Linked Data

• dbSNP Id: rs17035711
• gnomAD v2: 4-106463664-C-T
• gnomAD v3: 4-105542507-C-T
• gnomAD v4: 4-105542507-C-T
• MyVariant Identifiers: chr4:g.106463664C>T (hg19) ; chr4:g.105542507C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.105542507C>T , CM000666.2:g.105542507C>T	GRCh38
NC_000004.11:g.106463664C>T , CM000666.1:g.106463664C>T	GRCh37
NC_000004.10:g.106683113C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939038.1:n.498G>A
XR_939039.1:n.658G>A
XR_939040.1:n.296-1031G>A
XR_001741410.1:n.513G>A
XR_001741411.1:n.989G>A
XR_001741412.1:n.449+64G>A
XR_001741413.1:n.513G>A
XR_001741414.1:n.449+64G>A
XR_939038.2:n.513G>A
XR_939040.2:n.311-1031G>A