Canonical Allele Identifier: CA565469900

Gene: OFCC1

Linked Data

• dbSNP Id: rs1201291137
• gnomAD v2: 6-9993691-A-G
• gnomAD v3: 6-9993458-A-G
• gnomAD v4: 6-9993458-A-G
• MyVariant Identifiers: chr6:g.9993691A>G (hg19) ; chr6:g.9993458A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.9993458A>G , CM000668.2:g.9993458A>G	GRCh38
NC_000006.11:g.9993691A>G , CM000668.1:g.9993691A>G	GRCh37
NC_000006.10:g.10101677A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000472329.5:n.117-54109T>C
ENST00000481704.1:c.6-54109T>C	ENSP00000418286.1:n.6-54109T>C
ENST00000485268.1:c.-290-45996T>C	ENSP00000417933.1:n.-290-45996T>C
XM_011515036.1:c.123-54109T>C	XP_011513338.1:n.123-54109T>C
XM_017011612.1:c.6-54109T>C	XP_016867101.1:n.6-54109T>C
NR_170155.1:n.338-54109T>C