Canonical Allele Identifier: CA168203806

Gene: KEL

Linked Data

• dbSNP Id: rs889948385
• gnomAD v4: 7-142958160-C-A
• MyVariant Identifiers: chr7:g.142655247C>A (hg19) ; chr7:g.142958160C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142958160C>A , CM000669.2:g.142958160C>A	GRCh38
NC_000007.13:g.142655247C>A , CM000669.1:g.142655247C>A	GRCh37
NC_000007.12:g.142365369C>A	NCBI36
NG_007492.1:g.9257G>T
NG_007492.2:g.9257G>T
NG_007492.3:g.9257G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.525+144G>T MANE Select	ENSP00000347409.2:n.525+144G>T
ENST00000467543.6:c.*377+144G>T	ENSP00000420011.2:n.*377+144G>T
ENST00000355265.6:c.525+144G>T	ENSP00000347409.2:n.525+144G>T
ENST00000467543.5:c.468+144G>T	ENSP00000420011.1:n.468+144G>T
ENST00000476829.5:c.525+144G>T	ENSP00000419889.1:n.525+144G>T
ENST00000479768.6:n.643+144G>T
ENST00000494148.1:n.124+144G>T
NM_000420.2:c.525+144G>T	NP_000411.1:n.525+144G>T
XM_005249993.2:c.561+144G>T	XP_005250050.1:n.561+144G>T
NM_000420.3:c.525+144G>T MANE Select	NP_000411.1:n.525+144G>T