Canonical Allele Identifier: CA369627922
Gene: KEL HGNC NCBI

Linked Data

gnomAD v4: 7-142954186-T-G
MyVariant Identifiers: chr7:g.142651273T>G (hg19) chr7:g.142954186T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142954186T>G , CM000669.2:g.142954186T>G GRCh38
NC_000007.13:g.142651273T>G , CM000669.1:g.142651273T>G GRCh37
NC_000007.12:g.142361395T>G NCBI36
NG_007492.1:g.13231A>C
NG_007492.2:g.13231A>C
NG_007492.3:g.13231A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.922A>C MANE Select ENSP00000347409.2:p.Lys308Gln
ENST00000355265.6:c.922A>C ENSP00000347409.2:p.Lys308Gln
ENST00000479768.6:n.1040A>C
NM_000420.2:c.922A>C NP_000411.1:p.Lys308Gln
XM_005249993.2:c.958A>C XP_005250050.1:p.Lys320Gln
XM_005249994.3:c.-26A>C XP_005250051.1:n.-26A>C
NM_000420.3:c.922A>C MANE Select NP_000411.1:p.Lys308Gln
Search 100 bp 5'
Search 100 bp 3'