Canonical Allele Identifier: CA103381281

Gene:

Linked Data

• dbSNP Id: rs960512224
• gnomAD v3: 4-105542496-A-G
• gnomAD v4: 4-105542496-A-G
• MyVariant Identifiers: chr4:g.106463653A>G (hg19) ; chr4:g.105542496A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.105542496A>G , CM000666.2:g.105542496A>G	GRCh38
NC_000004.11:g.106463653A>G , CM000666.1:g.106463653A>G	GRCh37
NC_000004.10:g.106683102A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939038.1:n.509T>C
XR_939039.1:n.669T>C
XR_939040.1:n.296-1020T>C
XR_001741410.1:n.524T>C
XR_001741411.1:n.1000T>C
XR_001741412.1:n.449+75T>C
XR_001741413.1:n.524T>C
XR_001741414.1:n.449+75T>C
XR_939038.2:n.524T>C
XR_939040.2:n.311-1020T>C