Canonical Allele Identifier: CA134766653

Gene: OFCC1

Linked Data

• dbSNP Id: rs947533516
• gnomAD v3: 6-10175694-C-G
• gnomAD v4: 6-10175694-C-G
• MyVariant Identifiers: chr6:g.10175927C>G (hg19) ; chr6:g.10175694C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10175694C>G , CM000668.2:g.10175694C>G	GRCh38
NC_000006.11:g.10175927C>G , CM000668.1:g.10175927C>G	GRCh37
NC_000006.10:g.10283913C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000462111.1:n.164-16195G>C
ENST00000481704.1:c.-101-16195G>C	ENSP00000418286.1:n.-101-16195G>C
XM_017011612.1:c.-101-16195G>C	XP_016867101.1:n.-101-16195G>C
NR_170155.1:n.232-16195G>C