Canonical Allele Identifier: CA6590591

Gene: KRT8

Linked Data

• dbSNP Id: rs773747000
• ExAC: 12:53298560 T / C
• gnomAD v2: 12-53298560-T-C
• gnomAD v3: 12-52904776-T-C
• gnomAD v4: 12-52904776-T-C
• MyVariant Identifiers: chr12:g.53298560T>C (hg19) ; chr12:g.52904776T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52904776T>C , CM000674.2:g.52904776T>C	GRCh38
NC_000012.11:g.53298560T>C , CM000674.1:g.53298560T>C	GRCh37
NC_000012.10:g.51584827T>C	NCBI36
NG_008402.1:g.5309A>G
NG_008402.2:g.50091A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692008.1:c.206A>G MANE Select	ENSP00000509398.1:p.Asn69Ser
ENST00000293308.11:c.206A>G	ENSP00000293308.6:p.Asn69Ser
ENST00000546542.1:c.440A>G	ENSP00000450228.1:p.Asn147Ser
ENST00000546583.5:n.277A>G
ENST00000546826.5:c.206A>G	ENSP00000447881.1:p.Asn69Ser
ENST00000546897.5:c.206A>G	ENSP00000447402.1:p.Asn69Ser
ENST00000548998.5:c.326A>G	ENSP00000447040.1:p.Asn109Ser
ENST00000550170.5:n.269A>G
ENST00000552150.5:c.290A>G	ENSP00000449404.1:p.Asn97Ser
ENST00000552551.5:c.206A>G	ENSP00000447566.1:p.Asn69Ser
NM_001256282.1:c.290A>G	NP_001243211.1:p.Asn97Ser
NM_001256293.1:c.206A>G	NP_001243222.1:p.Asn69Ser
NM_002273.3:c.206A>G	NP_002264.1:p.Asn69Ser
NR_045962.1:n.663A>G
NM_001256282.2:c.290A>G	NP_001243211.1:p.Asn97Ser
NM_001256293.2:c.206A>G	NP_001243222.1:p.Asn69Ser
NM_002273.4:c.206A>G MANE Select	NP_002264.1:p.Asn69Ser
NR_045962.2:n.657A>G