Canonical Allele Identifier: CA828661978

Gene:

Linked Data

• dbSNP Id: rs1163789243
• gnomAD v3: 6-8169816-C-T
• gnomAD v4: 6-8169816-C-T
• MyVariant Identifiers: chr6:g.8170049C>T (hg19) ; chr6:g.8169816C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.8169816C>T , CM000668.2:g.8169816C>T	GRCh38
NC_000006.11:g.8170049C>T , CM000668.1:g.8170049C>T	GRCh37
NC_000006.10:g.8115048C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_926440.1:n.82+11556C>T
XR_926441.1:n.189+1896C>T
XR_926442.1:n.82+11556C>T
XR_926443.1:n.82+11556C>T
XR_001743950.1:n.179+1896C>T
XR_926440.2:n.74+11556C>T
XR_926441.2:n.179+1896C>T
XR_926443.2:n.83+11556C>T