Canonical Allele Identifier: CA6588815
Gene: KRT4 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.52813844G>A
GRCh37 chr12:g.53207628G>A
Revel Score:
ENST00000551956 (MANE Select) 0.055
ENST00000293774 0.055
ENST00000458244 0.055
gnomAD v2:
12:53207628 G / A
gnomAD v3:
12:52813844 G / A
gnomAD v4:
chr12-52813844-G-A
Joint Max Group AF 0.5970362 (AFR)
Genomes Max Group AF 0.61505528 (AFR)
Exomes Max Group AF 0.57192415 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52813844G>A , CM000674.2:g.52813844G>A GRCh38
NC_000012.11:g.53207628G>A , CM000674.1:g.53207628G>A GRCh37
NC_000012.10:g.51493895G>A NCBI36
NG_007380.1:g.5708C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000551956.2:c.215C>T MANE Select ENSP00000448220.1:p.Ala72Val
ENST00000548097.5:c.211+4C>T ENSP00000449755.1:n.211+4C>T
ENST00000551956.1:c.215C>T ENSP00000448220.1:p.Ala72Val
ENST00000552668.1:c.211+4C>T ENSP00000447320.1:n.211+4C>T
NM_002272.3:c.215C>T NP_002263.3:p.Ala72Val
NM_002272.4:c.215C>T MANE Select NP_002263.3:p.Ala72Val
Search 100 bp 5'
Search 100 bp 3'