Canonical Allele Identifier: CA369628105
Gene: KEL HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.142651368A>C (hg19) chr7:g.142954281A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142954281A>C , CM000669.2:g.142954281A>C GRCh38
NC_000007.13:g.142651368A>C , CM000669.1:g.142651368A>C GRCh37
NC_000007.12:g.142361490A>C NCBI36
NG_007492.1:g.13136T>G
NG_007492.2:g.13136T>G
NG_007492.3:g.13136T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.827T>G MANE Select ENSP00000347409.2:p.Ile276Ser
ENST00000355265.6:c.827T>G ENSP00000347409.2:p.Ile276Ser
ENST00000479768.6:n.945T>G
NM_000420.2:c.827T>G NP_000411.1:p.Ile276Ser
XM_005249993.2:c.863T>G XP_005250050.1:p.Ile288Ser
XM_005249994.3:c.-121T>G XP_005250051.1:n.-121T>G
NM_000420.3:c.827T>G MANE Select NP_000411.1:p.Ile276Ser
Search 100 bp 5'
Search 100 bp 3'