Canonical Allele Identifier: CA369631341

Gene: KEL

Linked Data

• dbSNP Id: rs1796868022
• MyVariant Identifiers: chr7:g.142655042A>G (hg19) ; chr7:g.142957955A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957955A>G , CM000669.2:g.142957955A>G	GRCh38
NC_000007.13:g.142655042A>G , CM000669.1:g.142655042A>G	GRCh37
NC_000007.12:g.142365164A>G	NCBI36
NG_007492.1:g.9462T>C
NG_007492.2:g.9462T>C
NG_007492.3:g.9462T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.544T>C MANE Select	ENSP00000347409.2:p.Ser182Pro
ENST00000467543.6:c.*396T>C	ENSP00000420011.2:n.*396T>C
ENST00000355265.6:c.544T>C	ENSP00000347409.2:p.Ser182Pro
ENST00000467543.5:c.487T>C	ENSP00000420011.1:p.Ser163Pro
ENST00000476829.5:c.525+349T>C	ENSP00000419889.1:n.525+349T>C
ENST00000479768.6:n.662T>C
ENST00000494148.1:n.143T>C
NM_000420.2:c.544T>C	NP_000411.1:p.Ser182Pro
XM_005249993.2:c.580T>C	XP_005250050.1:p.Ser194Pro
NM_000420.3:c.544T>C MANE Select	NP_000411.1:p.Ser182Pro