Canonical Allele Identifier: CA168203663

Gene: KEL

Linked Data

• dbSNP Id: rs867899950
• gnomAD v2: 7-142655100-G-T
• gnomAD v3: 7-142958013-G-T
• gnomAD v4: 7-142958013-G-T
• MyVariant Identifiers: chr7:g.142655100G>T (hg19) ; chr7:g.142958013G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142958013G>T , CM000669.2:g.142958013G>T	GRCh38
NC_000007.13:g.142655100G>T , CM000669.1:g.142655100G>T	GRCh37
NC_000007.12:g.142365222G>T	NCBI36
NG_007492.1:g.9404C>A
NG_007492.2:g.9404C>A
NG_007492.3:g.9404C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.526-40C>A MANE Select	ENSP00000347409.2:n.526-40C>A
ENST00000467543.6:c.*378-40C>A	ENSP00000420011.2:n.*378-40C>A
ENST00000355265.6:c.526-40C>A	ENSP00000347409.2:n.526-40C>A
ENST00000467543.5:c.469-40C>A	ENSP00000420011.1:n.469-40C>A
ENST00000476829.5:c.525+291C>A	ENSP00000419889.1:n.525+291C>A
ENST00000479768.6:n.644-40C>A
ENST00000494148.1:n.125-40C>A
NM_000420.2:c.526-40C>A	NP_000411.1:n.526-40C>A
XM_005249993.2:c.562-40C>A	XP_005250050.1:n.562-40C>A
NM_000420.3:c.526-40C>A MANE Select	NP_000411.1:n.526-40C>A