Canonical Allele Identifier: CA129654
Gene: KEL HGNC NCBI

Linked Data

ClinVar Variation Id: 31082
ClinVar RCV Id: RCV000024078 RCV000514536
dbSNP Id: rs8176038
ExAC: 7:142640113 A / G
gnomAD v2: 7-142640113-A-G
gnomAD v3: 7-142943026-A-G
gnomAD v4: 7-142943026-A-G
MyVariant Identifiers: chr7:g.142640113A>G (hg19) chr7:g.142943026A>G (hg38)
PubMed: PMID:7570911 PMID:12842980
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142943026A>G , CM000669.2:g.142943026A>G GRCh38
NC_000007.13:g.142640113A>G , CM000669.1:g.142640113A>G GRCh37
NC_000007.12:g.142350235A>G NCBI36
NG_007492.1:g.24391T>C
NG_007492.2:g.24391T>C
NG_007492.3:g.24391T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355265.7:c.1790T>C MANE Select ENSP00000347409.2:p.Leu597Pro
ENST00000355265.6:c.1790T>C ENSP00000347409.2:p.Leu597Pro
ENST00000470850.1:n.169-79T>C
ENST00000478969.1:n.129T>C
NM_000420.2:c.1790T>C NP_000411.1:p.Leu597Pro
XM_005249993.2:c.1826T>C XP_005250050.1:p.Leu609Pro
XM_005249994.3:c.863T>C XP_005250051.1:p.Leu288Pro
NM_000420.3:c.1790T>C MANE Select NP_000411.1:p.Leu597Pro
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