Canonical Allele Identifier: CA565469907

Gene: OFCC1

Linked Data

• dbSNP Id: rs1364357232
• gnomAD v2: 6-10176188-A-C
• gnomAD v3: 6-10175955-A-C
• gnomAD v4: 6-10175955-A-C
• MyVariant Identifiers: chr6:g.10176188A>C (hg19) ; chr6:g.10175955A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10175955A>C , CM000668.2:g.10175955A>C	GRCh38
NC_000006.11:g.10176188A>C , CM000668.1:g.10176188A>C	GRCh37
NC_000006.10:g.10284174A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000462111.1:n.164-16456T>G
ENST00000481704.1:c.-101-16456T>G	ENSP00000418286.1:n.-101-16456T>G
XM_017011612.1:c.-101-16456T>G	XP_016867101.1:n.-101-16456T>G
NR_170155.1:n.232-16456T>G