Canonical Allele Identifier: CA6716487
Gene: KERA HGNC NCBI

Linked Data

dbSNP Id: rs764168664
ExAC: 12:91449170 T / C
gnomAD v2: 12-91449170-T-C
gnomAD v4: 12-91055393-T-C
MyVariant Identifiers: chr12:g.91449170T>C (hg19) chr12:g.91055393T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055393T>C , CM000674.2:g.91055393T>C GRCh38
NC_000012.11:g.91449170T>C , CM000674.1:g.91449170T>C GRCh37
NC_000012.10:g.89973301T>C NCBI36
NG_021223.1:g.7962A>G , LRG_538:g.7962A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.886+3A>G MANE Select ENSP00000266719.3:n.886+3A>G
ENST00000266719.3:c.886+3A>G ENSP00000266719.3:n.886+3A>G
NM_007035.3:c.886+3A>G , LRG_538t1:c.886+3A>G NP_008966.1:n.886+3A>G
XM_011537781.1:c.886+3A>G XP_011536083.1:n.886+3A>G
NM_007035.4:c.886+3A>G MANE Select NP_008966.1:n.886+3A>G
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