Canonical Allele Identifier: CA216523

Gene: KRT18

Linked Data

• ClinVar Variation Id: 66131
• ClinVar RCV Id: RCV000056431
• dbSNP Id: rs57370769
• ExAC: 12:53345972 G / A
• gnomAD v2: 12-53345972-G-A
• gnomAD v3: 12-52952188-G-A
• gnomAD v4: 12-52952188-G-A
• MyVariant Identifiers: chr12:g.53345972G>A (hg19) ; chr12:g.52952188G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52952188G>A , CM000674.2:g.52952188G>A	GRCh38
NC_000012.11:g.53345972G>A , CM000674.1:g.53345972G>A	GRCh37
NC_000012.10:g.51632239G>A	NCBI36
NG_008351.1:g.8318G>A
NG_008402.2:g.2679C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388835.4:c.1018G>A MANE Select	ENSP00000373487.3:p.Gly340Arg
ENST00000388835.3:c.1018G>A	ENSP00000373487.3:p.Gly340Arg
ENST00000388837.6:c.1018G>A	ENSP00000373489.2:p.Gly340Arg
ENST00000546656.1:n.431G>A
ENST00000548496.1:n.447G>A
ENST00000549078.5:n.1404G>A
ENST00000550600.5:c.1018G>A	ENSP00000447278.1:p.Gly340Arg
NM_000224.2:c.1018G>A	NP_000215.1:p.Gly340Arg
NM_199187.1:c.1018G>A	NP_954657.1:p.Gly340Arg
NM_000224.3:c.1018G>A MANE Select	NP_000215.1:p.Gly340Arg
NM_199187.2:c.1018G>A	NP_954657.1:p.Gly340Arg