Canonical Allele Identifier: CA6588711
Gene: KRT4 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.52811973T>C
GRCh37 chr12:g.53205757T>C
Revel Score:
ENST00000551956 (MANE Select) 0.231
ENST00000293774 0.231
ENST00000458244 0.231
gnomAD v2:
12:53205757 T / C
gnomAD v3:
12:52811973 T / C
gnomAD v4:
chr12-52811973-T-C
Joint Max Group AF 0.56784746 (AFR)
Genomes Max Group AF 0.55842108 (AFR)
Exomes Max Group AF 0.5753424 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52811973T>C , CM000674.2:g.52811973T>C GRCh38
NC_000012.11:g.53205757T>C , CM000674.1:g.53205757T>C GRCh37
NC_000012.10:g.51492024T>C NCBI36
NG_007380.1:g.7579A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000551956.2:c.467A>G MANE Select ENSP00000448220.1:p.Gln156Arg
ENST00000548097.5:c.216A>G ENSP00000449755.1:p.Ala72=
ENST00000551436.1:n.25A>G
ENST00000551956.1:c.467A>G ENSP00000448220.1:p.Gln156Arg
ENST00000552668.1:c.*83-1157A>G ENSP00000447320.1:n.*83-1157A>G
NM_002272.3:c.467A>G NP_002263.3:p.Gln156Arg
NM_002272.4:c.467A>G MANE Select NP_002263.3:p.Gln156Arg
Search 100 bp 5'
Search 100 bp 3'