Canonical Allele Identifier: CA4534571

Gene: KEL

Linked Data

• dbSNP Id: rs757687580
• ExAC: 7:142655110 C / T
• gnomAD v2: 7-142655110-C-T
• MyVariant Identifiers: chr7:g.142655110C>T (hg19) ; chr7:g.142958023C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142958023C>T , CM000669.2:g.142958023C>T	GRCh38
NC_000007.13:g.142655110C>T , CM000669.1:g.142655110C>T	GRCh37
NC_000007.12:g.142365232C>T	NCBI36
NG_007492.1:g.9394G>A
NG_007492.2:g.9394G>A
NG_007492.3:g.9394G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.526-50G>A MANE Select	ENSP00000347409.2:n.526-50G>A
ENST00000467543.6:c.*378-50G>A	ENSP00000420011.2:n.*378-50G>A
ENST00000355265.6:c.526-50G>A	ENSP00000347409.2:n.526-50G>A
ENST00000467543.5:c.469-50G>A	ENSP00000420011.1:n.469-50G>A
ENST00000476829.5:c.525+281G>A	ENSP00000419889.1:n.525+281G>A
ENST00000479768.6:n.644-50G>A
ENST00000494148.1:n.125-50G>A
NM_000420.2:c.526-50G>A	NP_000411.1:n.526-50G>A
XM_005249993.2:c.562-50G>A	XP_005250050.1:n.562-50G>A
NM_000420.3:c.526-50G>A MANE Select	NP_000411.1:n.526-50G>A