Canonical Allele Identifier: CA6716592
Gene: KERA HGNC NCBI

Linked Data

ClinVar Variation Id: 2628327
ClinVar RCV Id: RCV003397182
dbSNP Id: rs756696166
ExAC: 12:91449728 C / T
gnomAD v2: 12-91449728-C-T
gnomAD v3: 12-91055951-C-T
gnomAD v4: 12-91055951-C-T
COSMIC: COSM3466359
MyVariant Identifiers: chr12:g.91449728C>T (hg19) chr12:g.91055951C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055951C>T , CM000674.2:g.91055951C>T GRCh38
NC_000012.11:g.91449728C>T , CM000674.1:g.91449728C>T GRCh37
NC_000012.10:g.89973859C>T NCBI36
NG_021223.1:g.7404G>A , LRG_538:g.7404G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.331G>A MANE Select ENSP00000266719.3:p.Gly111Arg
ENST00000266719.3:c.331G>A ENSP00000266719.3:p.Gly111Arg
NM_007035.3:c.331G>A , LRG_538t1:c.331G>A NP_008966.1:p.Gly111Arg
XM_011537781.1:c.331G>A XP_011536083.1:p.Gly111Arg
NM_007035.4:c.331G>A MANE Select NP_008966.1:p.Gly111Arg
Search 100 bp 5'
Search 100 bp 3'