Canonical Allele Identifier: CA369630363
Gene: KEL HGNC NCBI

Linked Data

gnomAD v4: 7-142957828-T-C
MyVariant Identifiers: chr7:g.142654915T>C (hg19) chr7:g.142957828T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142957828T>C , CM000669.2:g.142957828T>C GRCh38
NC_000007.13:g.142654915T>C , CM000669.1:g.142654915T>C GRCh37
NC_000007.12:g.142365037T>C NCBI36
NG_007492.1:g.9589A>G
NG_007492.2:g.9589A>G
NG_007492.3:g.9589A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.671A>G MANE Select ENSP00000347409.2:p.Gln224Arg
ENST00000355265.6:c.671A>G ENSP00000347409.2:p.Gln224Arg
ENST00000476829.5:c.525+476A>G ENSP00000419889.1:n.525+476A>G
ENST00000479768.6:n.789A>G
ENST00000494148.1:n.270A>G
NM_000420.2:c.671A>G NP_000411.1:p.Gln224Arg
XM_005249993.2:c.707A>G XP_005250050.1:p.Gln236Arg
NM_000420.3:c.671A>G MANE Select NP_000411.1:p.Gln224Arg
Search 100 bp 5'
Search 100 bp 3'