Canonical Allele Identifier: CA369627916
Gene: KEL HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.142651271C>G (hg19) chr7:g.142954184C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142954184C>G , CM000669.2:g.142954184C>G GRCh38
NC_000007.13:g.142651271C>G , CM000669.1:g.142651271C>G GRCh37
NC_000007.12:g.142361393C>G NCBI36
NG_007492.1:g.13233G>C
NG_007492.2:g.13233G>C
NG_007492.3:g.13233G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.924G>C MANE Select ENSP00000347409.2:p.Lys308Asn
ENST00000355265.6:c.924G>C ENSP00000347409.2:p.Lys308Asn
ENST00000479768.6:n.1042G>C
NM_000420.2:c.924G>C NP_000411.1:p.Lys308Asn
XM_005249993.2:c.960G>C XP_005250050.1:p.Lys320Asn
XM_005249994.3:c.-24G>C XP_005250051.1:n.-24G>C
NM_000420.3:c.924G>C MANE Select NP_000411.1:p.Lys308Asn
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