Canonical Allele Identifier: CA241201467
Gene: KERA HGNC NCBI

Linked Data

ClinVar Variation Id: 2370740
ClinVar RCV Id: RCV004207552
dbSNP Id: rs200817351
gnomAD v3: 12-91055858-T-C
gnomAD v4: 12-91055858-T-C
MyVariant Identifiers: chr12:g.91449635T>C (hg19) chr12:g.91055858T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055858T>C , CM000674.2:g.91055858T>C GRCh38
NC_000012.11:g.91449635T>C , CM000674.1:g.91449635T>C GRCh37
NC_000012.10:g.89973766T>C NCBI36
NG_021223.1:g.7497A>G , LRG_538:g.7497A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.424A>G MANE Select ENSP00000266719.3:p.Arg142Gly
ENST00000266719.3:c.424A>G ENSP00000266719.3:p.Arg142Gly
NM_007035.3:c.424A>G , LRG_538t1:c.424A>G NP_008966.1:p.Arg142Gly
XM_011537781.1:c.424A>G XP_011536083.1:p.Arg142Gly
NM_007035.4:c.424A>G MANE Select NP_008966.1:p.Arg142Gly
Search 100 bp 5'
Search 100 bp 3'