Canonical Allele Identifier: CA369631245

Gene: KEL

Linked Data

• gnomAD v4: 7-142957945-C-A
• MyVariant Identifiers: chr7:g.142655032C>A (hg19) ; chr7:g.142957945C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957945C>A , CM000669.2:g.142957945C>A	GRCh38
NC_000007.13:g.142655032C>A , CM000669.1:g.142655032C>A	GRCh37
NC_000007.12:g.142365154C>A	NCBI36
NG_007492.1:g.9472G>T
NG_007492.2:g.9472G>T
NG_007492.3:g.9472G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.554G>T MANE Select	ENSP00000347409.2:p.Trp185Leu
ENST00000467543.6:c.*406G>T	ENSP00000420011.2:n.*406G>T
ENST00000355265.6:c.554G>T	ENSP00000347409.2:p.Trp185Leu
ENST00000467543.5:c.497G>T	ENSP00000420011.1:p.Trp166Leu
ENST00000476829.5:c.525+359G>T	ENSP00000419889.1:n.525+359G>T
ENST00000479768.6:n.672G>T
ENST00000494148.1:n.153G>T
NM_000420.2:c.554G>T	NP_000411.1:p.Trp185Leu
XM_005249993.2:c.590G>T	XP_005250050.1:p.Trp197Leu
NM_000420.3:c.554G>T MANE Select	NP_000411.1:p.Trp185Leu