Canonical Allele Identifier: CA830285648

Gene:

Linked Data

• dbSNP Id: rs1172313894
• gnomAD v3: 6-98102517-G-A
• gnomAD v4: 6-98102517-G-A
• MyVariant Identifiers: chr6:g.98550393G>A (hg19) ; chr6:g.98102517G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98102517G>A , CM000668.2:g.98102517G>A	GRCh38
NC_000006.11:g.98550393G>A , CM000668.1:g.98550393G>A	GRCh37
NC_000006.10:g.98657114G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_245563.2:n.456+3247G>A
XR_942809.1:n.456+3247G>A