Canonical Allele Identifier: CA6716594
Gene: KERA HGNC NCBI

Linked Data

ClinVar Variation Id: 2998410
ClinVar RCV Id: RCV003857073
dbSNP Id: rs754279432
ExAC: 12:91449735 G / C
gnomAD v2: 12-91449735-G-C
gnomAD v3: 12-91055958-G-C
gnomAD v4: 12-91055958-G-C
MyVariant Identifiers: chr12:g.91449735G>C (hg19) chr12:g.91055958G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055958G>C , CM000674.2:g.91055958G>C GRCh38
NC_000012.11:g.91449735G>C , CM000674.1:g.91449735G>C GRCh37
NC_000012.10:g.89973866G>C NCBI36
NG_021223.1:g.7397C>G , LRG_538:g.7397C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.324C>G MANE Select ENSP00000266719.3:p.Thr108=
ENST00000266719.3:c.324C>G ENSP00000266719.3:p.Thr108=
NM_007035.3:c.324C>G , LRG_538t1:c.324C>G NP_008966.1:p.Thr108=
XM_011537781.1:c.324C>G XP_011536083.1:p.Thr108=
NM_007035.4:c.324C>G MANE Select NP_008966.1:p.Thr108=
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