Canonical Allele Identifier: CA14767253

Gene:

Linked Data

• dbSNP Id: rs1810636
• gnomAD v2: 20-2654925-A-C
• gnomAD v3: 20-2674279-A-C
• gnomAD v4: 20-2674279-A-C
• MyVariant Identifiers: chr20:g.2654925A>C (hg19) ; chr20:g.2674279A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2674279A>C , CM000682.2:g.2674279A>C	GRCh38
NC_000020.10:g.2654925A>C , CM000682.1:g.2654925A>C	GRCh37
NC_000020.9:g.2602925A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_937210.1:n.675-3839T>G
XR_937211.1:n.674-3696T>G
XR_937210.2:n.668-3839T>G
XR_937211.2:n.666-3696T>G