Canonical Allele Identifier: CA134766652

Gene: OFCC1

Linked Data

• dbSNP Id: rs766835756
• gnomAD v2: 6-10175922-T-C
• gnomAD v3: 6-10175689-T-C
• gnomAD v4: 6-10175689-T-C
• MyVariant Identifiers: chr6:g.10175922T>C (hg19) ; chr6:g.10175689T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10175689T>C , CM000668.2:g.10175689T>C	GRCh38
NC_000006.11:g.10175922T>C , CM000668.1:g.10175922T>C	GRCh37
NC_000006.10:g.10283908T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000462111.1:n.164-16190A>G
ENST00000481704.1:c.-101-16190A>G	ENSP00000418286.1:n.-101-16190A>G
XM_017011612.1:c.-101-16190A>G	XP_016867101.1:n.-101-16190A>G
NR_170155.1:n.232-16190A>G