Canonical Allele Identifier: CA369630756

Gene: KEL

Linked Data

• dbSNP Id: rs1198892942
• gnomAD v2: 7-142654970-A-G
• gnomAD v4: 7-142957883-A-G
• MyVariant Identifiers: chr7:g.142654970A>G (hg19) ; chr7:g.142957883A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957883A>G , CM000669.2:g.142957883A>G	GRCh38
NC_000007.13:g.142654970A>G , CM000669.1:g.142654970A>G	GRCh37
NC_000007.12:g.142365092A>G	NCBI36
NG_007492.1:g.9534T>C
NG_007492.2:g.9534T>C
NG_007492.3:g.9534T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.616T>C MANE Select	ENSP00000347409.2:p.Phe206Leu
ENST00000467543.6:c.*468T>C	ENSP00000420011.2:n.*468T>C
ENST00000355265.6:c.616T>C	ENSP00000347409.2:p.Phe206Leu
ENST00000467543.5:c.559T>C	ENSP00000420011.1:p.Phe187Leu
ENST00000476829.5:c.525+421T>C	ENSP00000419889.1:n.525+421T>C
ENST00000479768.6:n.734T>C
ENST00000494148.1:n.215T>C
NM_000420.2:c.616T>C	NP_000411.1:p.Phe206Leu
XM_005249993.2:c.652T>C	XP_005250050.1:p.Phe218Leu
NM_000420.3:c.616T>C MANE Select	NP_000411.1:p.Phe206Leu