Canonical Allele Identifier: CA784842433

Gene:

Linked Data

• dbSNP Id: rs1359530590
• gnomAD v3: 4-105542957-G-C
• gnomAD v4: 4-105542957-G-C
• MyVariant Identifiers: chr4:g.106464114G>C (hg19) ; chr4:g.105542957G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.105542957G>C , CM000666.2:g.105542957G>C	GRCh38
NC_000004.11:g.106464114G>C , CM000666.1:g.106464114G>C	GRCh37
NC_000004.10:g.106683563G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939038.1:n.296-248C>G
XR_939039.1:n.456-248C>G
XR_939040.1:n.296-1481C>G
XR_001741410.1:n.311-248C>G
XR_001741411.1:n.787-248C>G
XR_001741412.1:n.311-248C>G
XR_001741413.1:n.311-248C>G
XR_001741414.1:n.311-248C>G
XR_939038.2:n.311-248C>G
XR_939040.2:n.311-1481C>G