Canonical Allele Identifier: CA6716506

Gene: KERA

Linked Data

• ClinVar Variation Id: 3113960
• ClinVar RCV Id: RCV004409244
• dbSNP Id: rs140037106
• ExAC: 12:91449262 T / C
• gnomAD v2: 12-91449262-T-C
• gnomAD v3: 12-91055485-T-C
• gnomAD v4: 12-91055485-T-C
• MyVariant Identifiers: chr12:g.91449262T>C (hg19) ; chr12:g.91055485T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91055485T>C , CM000674.2:g.91055485T>C	GRCh38
NC_000012.11:g.91449262T>C , CM000674.1:g.91449262T>C	GRCh37
NC_000012.10:g.89973393T>C	NCBI36
NG_021223.1:g.7870A>G , LRG_538:g.7870A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266719.4:c.797A>G MANE Select	ENSP00000266719.3:p.Asp266Gly
ENST00000266719.3:c.797A>G	ENSP00000266719.3:p.Asp266Gly
NM_007035.3:c.797A>G , LRG_538t1:c.797A>G	NP_008966.1:p.Asp266Gly
XM_011537781.1:c.797A>G	XP_011536083.1:p.Asp266Gly
NM_007035.4:c.797A>G MANE Select	NP_008966.1:p.Asp266Gly