Canonical Allele Identifier: CA4534467
Gene: KEL HGNC NCBI

Linked Data

dbSNP Id: rs150259463
ExAC: 7:142651363 T / G
gnomAD v2: 7-142651363-T-G
gnomAD v3: 7-142954276-T-G
gnomAD v4: 7-142954276-T-G
MyVariant Identifiers: chr7:g.142651363T>G (hg19) chr7:g.142954276T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142954276T>G , CM000669.2:g.142954276T>G GRCh38
NC_000007.13:g.142651363T>G , CM000669.1:g.142651363T>G GRCh37
NC_000007.12:g.142361485T>G NCBI36
NG_007492.1:g.13141A>C
NG_007492.2:g.13141A>C
NG_007492.3:g.13141A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.832A>C MANE Select ENSP00000347409.2:p.Ile278Leu
ENST00000355265.6:c.832A>C ENSP00000347409.2:p.Ile278Leu
ENST00000479768.6:n.950A>C
NM_000420.2:c.832A>C NP_000411.1:p.Ile278Leu
XM_005249993.2:c.868A>C XP_005250050.1:p.Ile290Leu
XM_005249994.3:c.-116A>C XP_005250051.1:n.-116A>C
NM_000420.3:c.832A>C MANE Select NP_000411.1:p.Ile278Leu
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