Canonical Allele Identifier: CA369631251

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142655032C>G (hg19) ; chr7:g.142957945C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.554G>C MANE Select	ENSP00000347409.2:p.Trp185Ser
ENST00000467543.6:c.*406G>C	ENSP00000420011.2:n.*406G>C
ENST00000355265.6:c.554G>C	ENSP00000347409.2:p.Trp185Ser
ENST00000467543.5:c.497G>C	ENSP00000420011.1:p.Trp166Ser
ENST00000476829.5:c.525+359G>C	ENSP00000419889.1:n.525+359G>C
ENST00000479768.6:n.672G>C
ENST00000494148.1:n.153G>C
NM_000420.2:c.554G>C	NP_000411.1:p.Trp185Ser
XM_005249993.2:c.590G>C	XP_005250050.1:p.Trp197Ser
NM_000420.3:c.554G>C MANE Select	NP_000411.1:p.Trp185Ser