Canonical Allele Identifier: CA369627918
Gene: KEL HGNC NCBI

Linked Data

dbSNP Id: rs1562962327
gnomAD v4: 7-142954185-T-C
COSMIC: COSM3411706
MyVariant Identifiers: chr7:g.142651272T>C (hg19) chr7:g.142954185T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142954185T>C , CM000669.2:g.142954185T>C GRCh38
NC_000007.13:g.142651272T>C , CM000669.1:g.142651272T>C GRCh37
NC_000007.12:g.142361394T>C NCBI36
NG_007492.1:g.13232A>G
NG_007492.2:g.13232A>G
NG_007492.3:g.13232A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.923A>G MANE Select ENSP00000347409.2:p.Lys308Arg
ENST00000355265.6:c.923A>G ENSP00000347409.2:p.Lys308Arg
ENST00000479768.6:n.1041A>G
NM_000420.2:c.923A>G NP_000411.1:p.Lys308Arg
XM_005249993.2:c.959A>G XP_005250050.1:p.Lys320Arg
XM_005249994.3:c.-25A>G XP_005250051.1:n.-25A>G
NM_000420.3:c.923A>G MANE Select NP_000411.1:p.Lys308Arg
Search 100 bp 5'
Search 100 bp 3'