Canonical Allele Identifier: CA4534436
Gene: KEL HGNC NCBI

Linked Data

dbSNP Id: rs754347524
ExAC: 7:142651254 C / T
gnomAD v2: 7-142651254-C-T
gnomAD v4: 7-142954167-C-T
MyVariant Identifiers: chr7:g.142651254C>T (hg19) chr7:g.142954167C>T (hg38)
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Genomic Alleles

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

Transcript Alleles

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