Canonical Allele Identifier: CA2685364506
Gene: KEL HGNC NCBI

Linked Data

gnomAD v4: 7-142954167-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142954167C>A , CM000669.2:g.142954167C>A GRCh38
NC_000007.13:g.142651254C>A , CM000669.1:g.142651254C>A GRCh37
NC_000007.12:g.142361376C>A NCBI36
NG_007492.1:g.13250G>T
NG_007492.2:g.13250G>T
NG_007492.3:g.13250G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.924+17G>T MANE Select ENSP00000347409.2:n.924+17G>T
ENST00000355265.6:c.924+17G>T ENSP00000347409.2:n.924+17G>T
ENST00000479768.6:n.1042+17G>T
NM_000420.2:c.924+17G>T NP_000411.1:n.924+17G>T
XM_005249993.2:c.960+17G>T XP_005250050.1:n.960+17G>T
XM_005249994.3:c.-24+17G>T XP_005250051.1:n.-24+17G>T
NM_000420.3:c.924+17G>T MANE Select NP_000411.1:n.924+17G>T
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