Canonical Allele Identifier: CA118319
Gene: KERA HGNC NCBI

Linked Data

ClinVar Variation Id: 6519
ClinVar RCV Id: RCV000006892
dbSNP Id: rs121917858

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055542T>C , CM000674.2:g.91055542T>C GRCh38
NC_000012.11:g.91449319T>C , CM000674.1:g.91449319T>C GRCh37
NC_000012.10:g.89973450T>C NCBI36
NG_021223.1:g.7813A>G , LRG_538:g.7813A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000266719.4:c.740A>G MANE Select ENSP00000266719.3:p.Asn247Ser
ENST00000266719.3:c.740A>G ENSP00000266719.3:p.Asn247Ser
NM_007035.3:c.740A>G , LRG_538t1:c.740A>G NP_008966.1:p.Asn247Ser
XM_011537781.1:c.740A>G XP_011536083.1:p.Asn247Ser
NM_007035.4:c.740A>G MANE Select NP_008966.1:p.Asn247Ser