Canonical Allele Identifier: CA103381324

Gene:

Linked Data

• dbSNP Id: rs1007124791
• gnomAD v2: 4-106463989-A-T
• gnomAD v3: 4-105542832-A-T
• gnomAD v4: 4-105542832-A-T
• MyVariant Identifiers: chr4:g.106463989A>T (hg19) ; chr4:g.105542832A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.105542832A>T , CM000666.2:g.105542832A>T	GRCh38
NC_000004.11:g.106463989A>T , CM000666.1:g.106463989A>T	GRCh37
NC_000004.10:g.106683438A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939038.1:n.296-123T>A
XR_939039.1:n.456-123T>A
XR_939040.1:n.296-1356T>A
XR_001741410.1:n.311-123T>A
XR_001741411.1:n.787-123T>A
XR_001741412.1:n.311-123T>A
XR_001741413.1:n.311-123T>A
XR_001741414.1:n.311-123T>A
XR_939038.2:n.311-123T>A
XR_939040.2:n.311-1356T>A