Canonical Allele Identifier: CA129654

Gene: KEL

Linked Data

• ClinVar Variation Id: 31082
• ClinVar RCV Id: RCV000024078 ; RCV000514536
• dbSNP Id: rs8176038
• ExAC: 7:142640113 A / G
• gnomAD v2: 7-142640113-A-G
• gnomAD v3: 7-142943026-A-G
• gnomAD v4: 7-142943026-A-G
• MyVariant Identifiers: chr7:g.142640113A>G (hg19) ; chr7:g.142943026A>G (hg38)
• PubMed: PMID:7570911 ; PMID:12842980

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142943026A>G , CM000669.2:g.142943026A>G	GRCh38
NC_000007.13:g.142640113A>G , CM000669.1:g.142640113A>G	GRCh37
NC_000007.12:g.142350235A>G	NCBI36
NG_007492.1:g.24391T>C
NG_007492.2:g.24391T>C
NG_007492.3:g.24391T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.1790T>C MANE Select	ENSP00000347409.2:p.Leu597Pro
ENST00000355265.6:c.1790T>C	ENSP00000347409.2:p.Leu597Pro
ENST00000470850.1:n.169-79T>C
ENST00000478969.1:n.129T>C
NM_000420.2:c.1790T>C	NP_000411.1:p.Leu597Pro
XM_005249993.2:c.1826T>C	XP_005250050.1:p.Leu609Pro
XM_005249994.3:c.863T>C	XP_005250051.1:p.Leu288Pro
NM_000420.3:c.1790T>C MANE Select	NP_000411.1:p.Leu597Pro