Canonical Allele Identifier: CA836961099

Gene:

Linked Data

• dbSNP Id: rs1290273307
• gnomAD v3: 7-24413350-C-A
• gnomAD v4: 7-24413350-C-A
• MyVariant Identifiers: chr7:g.24452969C>A (hg19) ; chr7:g.24413350C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24413350C>A , CM000669.2:g.24413350C>A	GRCh38
NC_000007.13:g.24452969C>A , CM000669.1:g.24452969C>A	GRCh37
NC_000007.12:g.24419494C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_017012910.1:c.-89+31709G>T	XP_016868399.1:n.-89+31709G>T
XM_017012911.1:c.-89+31709G>T	XP_016868400.1:n.-89+31709G>T
XR_001745121.1:n.344+31709G>T
XR_001745122.1:n.344+31709G>T
XR_001745123.1:n.344+31709G>T
XR_001745124.1:n.344+31709G>T
XR_001745125.1:n.344+31709G>T
XR_001745126.1:n.344+31709G>T
XR_001745127.1:n.344+31709G>T
XR_001745129.1:n.344+31709G>T
XR_001745130.1:n.344+31709G>T
XR_001745131.1:n.344+31709G>T
XR_001745132.1:n.344+31709G>T