Canonical Allele Identifier: CA369630571

Gene: KEL

Linked Data

• dbSNP Id: rs1373857087
• MyVariant Identifiers: chr7:g.142654943G>A (hg19) ; chr7:g.142957856G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957856G>A , CM000669.2:g.142957856G>A	GRCh38
NC_000007.13:g.142654943G>A , CM000669.1:g.142654943G>A	GRCh37
NC_000007.12:g.142365065G>A	NCBI36
NG_007492.1:g.9561C>T
NG_007492.2:g.9561C>T
NG_007492.3:g.9561C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.643C>T MANE Select	ENSP00000347409.2:p.Pro215Ser
ENST00000467543.6:c.*495C>T	ENSP00000420011.2:n.*495C>T
ENST00000355265.6:c.643C>T	ENSP00000347409.2:p.Pro215Ser
ENST00000467543.5:c.586C>T	ENSP00000420011.1:p.Pro196Ser
ENST00000476829.5:c.525+448C>T	ENSP00000419889.1:n.525+448C>T
ENST00000479768.6:n.761C>T
ENST00000494148.1:n.242C>T
NM_000420.2:c.643C>T	NP_000411.1:p.Pro215Ser
XM_005249993.2:c.679C>T	XP_005250050.1:p.Pro227Ser
NM_000420.3:c.643C>T MANE Select	NP_000411.1:p.Pro215Ser