Canonical Allele Identifier: CA369631349

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142655044A>C (hg19) ; chr7:g.142957957A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957957A>C , CM000669.2:g.142957957A>C	GRCh38
NC_000007.13:g.142655044A>C , CM000669.1:g.142655044A>C	GRCh37
NC_000007.12:g.142365166A>C	NCBI36
NG_007492.1:g.9460T>G
NG_007492.2:g.9460T>G
NG_007492.3:g.9460T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.542T>G MANE Select	ENSP00000347409.2:p.Ile181Ser
ENST00000467543.6:c.*394T>G	ENSP00000420011.2:n.*394T>G
ENST00000355265.6:c.542T>G	ENSP00000347409.2:p.Ile181Ser
ENST00000467543.5:c.485T>G	ENSP00000420011.1:p.Ile162Ser
ENST00000476829.5:c.525+347T>G	ENSP00000419889.1:n.525+347T>G
ENST00000479768.6:n.660T>G
ENST00000494148.1:n.141T>G
NM_000420.2:c.542T>G	NP_000411.1:p.Ile181Ser
XM_005249993.2:c.578T>G	XP_005250050.1:p.Ile193Ser
NM_000420.3:c.542T>G MANE Select	NP_000411.1:p.Ile181Ser