Canonical Allele Identifier: CA14249149

Gene:

Linked Data

• dbSNP Id: rs2962462
• gnomAD v2: 16-62798852-G-T
• gnomAD v3: 16-62764948-G-T
• gnomAD v4: 16-62764948-G-T
• MyVariant Identifiers: chr16:g.62798852G>T (hg19) ; chr16:g.62764948G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.62764948G>T , CM000678.2:g.62764948G>T	GRCh38
NC_000016.9:g.62798852G>T , CM000678.1:g.62798852G>T	GRCh37
NC_000016.8:g.61356353G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_429756.2:n.133-4044G>T
XR_933661.1:n.133-4044G>T
XR_933663.1:n.260-4044G>T
XR_933661.2:n.133-4044G>T
XR_933663.2:n.260-4044G>T