Canonical Allele Identifier: CA369627927
Gene: KEL HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.142651276G>C (hg19) chr7:g.142954189G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142954189G>C , CM000669.2:g.142954189G>C GRCh38
NC_000007.13:g.142651276G>C , CM000669.1:g.142651276G>C GRCh37
NC_000007.12:g.142361398G>C NCBI36
NG_007492.1:g.13228C>G
NG_007492.2:g.13228C>G
NG_007492.3:g.13228C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355265.7:c.919C>G MANE Select ENSP00000347409.2:p.Leu307Val
ENST00000355265.6:c.919C>G ENSP00000347409.2:p.Leu307Val
ENST00000479768.6:n.1037C>G
NM_000420.2:c.919C>G NP_000411.1:p.Leu307Val
XM_005249993.2:c.955C>G XP_005250050.1:p.Leu319Val
XM_005249994.3:c.-29C>G XP_005250051.1:n.-29C>G
NM_000420.3:c.919C>G MANE Select NP_000411.1:p.Leu307Val
Search 100 bp 5'
Search 100 bp 3'