Canonical Allele Identifier: CA6716524

Gene: KERA

Linked Data

• ClinVar Variation Id: 2038764
• ClinVar RCV Id: RCV002895197
• dbSNP Id: rs776712179
• ExAC: 12:91449340 G / T
• gnomAD v2: 12-91449340-G-T
• gnomAD v3: 12-91055563-G-T
• gnomAD v4: 12-91055563-G-T
• MyVariant Identifiers: chr12:g.91449340G>T (hg19) ; chr12:g.91055563G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91055563G>T , CM000674.2:g.91055563G>T	GRCh38
NC_000012.11:g.91449340G>T , CM000674.1:g.91449340G>T	GRCh37
NC_000012.10:g.89973471G>T	NCBI36
NG_021223.1:g.7792C>A , LRG_538:g.7792C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266719.4:c.719C>A MANE Select	ENSP00000266719.3:p.Ala240Asp
ENST00000266719.3:c.719C>A	ENSP00000266719.3:p.Ala240Asp
NM_007035.3:c.719C>A , LRG_538t1:c.719C>A	NP_008966.1:p.Ala240Asp
XM_011537781.1:c.719C>A	XP_011536083.1:p.Ala240Asp
NM_007035.4:c.719C>A MANE Select	NP_008966.1:p.Ala240Asp