Canonical Allele Identifier: CA6716481
Gene: KERA HGNC NCBI

Linked Data

dbSNP Id: rs766821401
ExAC: 12:91449137 C / A
gnomAD v2: 12-91449137-C-A
gnomAD v4: 12-91055360-C-A
MyVariant Identifiers: chr12:g.91449137C>A (hg19) chr12:g.91055360C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055360C>A , CM000674.2:g.91055360C>A GRCh38
NC_000012.11:g.91449137C>A , CM000674.1:g.91449137C>A GRCh37
NC_000012.10:g.89973268C>A NCBI36
NG_021223.1:g.7995G>T , LRG_538:g.7995G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.886+36G>T MANE Select ENSP00000266719.3:n.886+36G>T
ENST00000266719.3:c.886+36G>T ENSP00000266719.3:n.886+36G>T
NM_007035.3:c.886+36G>T , LRG_538t1:c.886+36G>T NP_008966.1:n.886+36G>T
XM_011537781.1:c.886+36G>T XP_011536083.1:n.886+36G>T
NM_007035.4:c.886+36G>T MANE Select NP_008966.1:n.886+36G>T
Search 100 bp 5'
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