Canonical Allele Identifier: CA565403881

Gene:

Linked Data

• dbSNP Id: rs1472854425
• gnomAD v2: 6-8169709-A-C
• gnomAD v3: 6-8169476-A-C
• gnomAD v4: 6-8169476-A-C
• MyVariant Identifiers: chr6:g.8169709A>C (hg19) ; chr6:g.8169476A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.8169476A>C , CM000668.2:g.8169476A>C	GRCh38
NC_000006.11:g.8169709A>C , CM000668.1:g.8169709A>C	GRCh37
NC_000006.10:g.8114708A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_926440.1:n.82+11216A>C
XR_926441.1:n.189+1556A>C
XR_926442.1:n.82+11216A>C
XR_926443.1:n.82+11216A>C
XR_001743950.1:n.179+1556A>C
XR_926440.2:n.74+11216A>C
XR_926441.2:n.179+1556A>C
XR_926443.2:n.83+11216A>C