Canonical Allele Identifier: CA369630420

Gene: KEL

Linked Data

• COSMIC: COSM6379080
• MyVariant Identifiers: chr7:g.142654922C>A (hg19) ; chr7:g.142957835C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957835C>A , CM000669.2:g.142957835C>A	GRCh38
NC_000007.13:g.142654922C>A , CM000669.1:g.142654922C>A	GRCh37
NC_000007.12:g.142365044C>A	NCBI36
NG_007492.1:g.9582G>T
NG_007492.2:g.9582G>T
NG_007492.3:g.9582G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.664G>T MANE Select	ENSP00000347409.2:p.Val222Phe
ENST00000467543.6:c.*516G>T	ENSP00000420011.2:n.*516G>T
ENST00000355265.6:c.664G>T	ENSP00000347409.2:p.Val222Phe
ENST00000467543.5:c.607G>T	ENSP00000420011.1:p.Val203Phe
ENST00000476829.5:c.525+469G>T	ENSP00000419889.1:n.525+469G>T
ENST00000479768.6:n.782G>T
ENST00000494148.1:n.263G>T
NM_000420.2:c.664G>T	NP_000411.1:p.Val222Phe
XM_005249993.2:c.700G>T	XP_005250050.1:p.Val234Phe
NM_000420.3:c.664G>T MANE Select	NP_000411.1:p.Val222Phe