Canonical Allele Identifier: CA6716489

Gene: KERA

Linked Data

• dbSNP Id: rs200555945
• ExAC: 12:91449204 C / T
• gnomAD v2: 12-91449204-C-T
• gnomAD v3: 12-91055427-C-T
• gnomAD v4: 12-91055427-C-T
• MyVariant Identifiers: chr12:g.91449204C>T (hg19) ; chr12:g.91055427C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91055427C>T , CM000674.2:g.91055427C>T	GRCh38
NC_000012.11:g.91449204C>T , CM000674.1:g.91449204C>T	GRCh37
NC_000012.10:g.89973335C>T	NCBI36
NG_021223.1:g.7928G>A , LRG_538:g.7928G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266719.4:c.855G>A MANE Select	ENSP00000266719.3:p.Gln285=
ENST00000266719.3:c.855G>A	ENSP00000266719.3:p.Gln285=
NM_007035.3:c.855G>A , LRG_538t1:c.855G>A	NP_008966.1:p.Gln285=
XM_011537781.1:c.855G>A	XP_011536083.1:p.Gln285=
NM_007035.4:c.855G>A MANE Select	NP_008966.1:p.Gln285=