Canonical Allele Identifier: CA679359189

Gene: OVOL1

Linked Data

• dbSNP Id: rs1246305248
• gnomAD v3: 11-65791796-G-C
• gnomAD v4: 11-65791796-G-C
• MyVariant Identifiers: chr11:g.65559267G>C (hg19) ; chr11:g.65791796G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65791796G>C , CM000673.2:g.65791796G>C	GRCh38
NC_000011.9:g.65559267G>C , CM000673.1:g.65559267G>C	GRCh37
NC_000011.8:g.65315843G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000335987.8:c.101-2235G>C MANE Select	ENSP00000337862.3:n.101-2235G>C
ENST00000335987.7:c.101-2235G>C	ENSP00000337862.3:n.101-2235G>C
ENST00000531907.1:n.361-522G>C
NM_004561.3:c.101-2235G>C	NP_004552.2:n.101-2235G>C
XM_005274018.3:c.-87+2103G>C	XP_005274075.1:n.-87+2103G>C
XM_011545067.1:c.-86-2235G>C	XP_011543369.1:n.-86-2235G>C
XM_011545068.1:c.-87+933G>C	XP_011543370.1:n.-87+933G>C
XM_011545067.2:c.-86-2235G>C	XP_011543369.1:n.-86-2235G>C
XM_011545068.3:c.-87+933G>C	XP_011543370.1:n.-87+933G>C
XM_017017837.1:c.-86-2235G>C	XP_016873326.1:n.-86-2235G>C
NM_004561.4:c.101-2235G>C MANE Select	NP_004552.2:n.101-2235G>C