Canonical Allele Identifier: CA384989794
Gene: KRT4 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.52811973T>G
GRCh37 chr12:g.53205757T>G
Revel Score:
ENST00000551956 (MANE Select) 0.570
ENST00000293774 0.570
ENST00000458244 0.570
gnomAD v2:
12:53205757 T / G
gnomAD v4:
chr12-52811973-T-G
Joint Max Group AF 0.00001534 (NFE)
Exomes Max Group AF 0.00001628 (NFE)
dbSNP:
7959052
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000551956.2:c.467A>C MANE Select ENSP00000448220.1:p.Gln156Pro
ENST00000548097.5:c.216A>C ENSP00000449755.1:p.Ala72=
ENST00000551436.1:n.25A>C
ENST00000551956.1:c.467A>C ENSP00000448220.1:p.Gln156Pro
ENST00000552668.1:c.*83-1157A>C ENSP00000447320.1:n.*83-1157A>C
NM_002272.3:c.467A>C NP_002263.3:p.Gln156Pro
NM_002272.4:c.467A>C MANE Select NP_002263.3:p.Gln156Pro
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