Canonical Allele Identifier: CA458278915

Gene: KEL

Linked Data

• gnomAD v4: 7-142954187-G-T
• COSMIC: COSM5677935
• MyVariant Identifiers: chr7:g.142651274G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142954187G>T , CM000669.2:g.142954187G>T	GRCh38
NC_000007.13:g.142651274G>T , CM000669.1:g.142651274G>T	GRCh37
NC_000007.12:g.142361396G>T	NCBI36
NG_007492.1:g.13230C>A
NG_007492.2:g.13230C>A
NG_007492.3:g.13230C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355265.7:c.921C>A MANE Select	ENSP00000347409.2:p.Leu307=
ENST00000355265.6:c.921C>A	ENSP00000347409.2:p.Leu307=
ENST00000479768.6:n.1039C>A
NM_000420.2:c.921C>A	NP_000411.1:p.Leu307=
XM_005249993.2:c.957C>A	XP_005250050.1:p.Leu319=
XM_005249994.3:c.-27C>A	XP_005250051.1:n.-27C>A
NM_000420.3:c.921C>A MANE Select	NP_000411.1:p.Leu307=