Canonical Allele Identifier: CA4534559

Gene: KEL

Linked Data

• dbSNP Id: rs8175978
• ExAC: 7:142655078 G / A
• gnomAD v2: 7-142655078-G-A
• gnomAD v3: 7-142957991-G-A
• gnomAD v4: 7-142957991-G-A
• MyVariant Identifiers: chr7:g.142655078G>A (hg19) ; chr7:g.142957991G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957991G>A , CM000669.2:g.142957991G>A	GRCh38
NC_000007.13:g.142655078G>A , CM000669.1:g.142655078G>A	GRCh37
NC_000007.12:g.142365200G>A	NCBI36
NG_007492.1:g.9426C>T
NG_007492.2:g.9426C>T
NG_007492.3:g.9426C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.526-18C>T MANE Select	ENSP00000347409.2:n.526-18C>T
ENST00000467543.6:c.*378-18C>T	ENSP00000420011.2:n.*378-18C>T
ENST00000355265.6:c.526-18C>T	ENSP00000347409.2:n.526-18C>T
ENST00000467543.5:c.469-18C>T	ENSP00000420011.1:n.469-18C>T
ENST00000476829.5:c.525+313C>T	ENSP00000419889.1:n.525+313C>T
ENST00000479768.6:n.644-18C>T
ENST00000494148.1:n.125-18C>T
NM_000420.2:c.526-18C>T	NP_000411.1:n.526-18C>T
XM_005249993.2:c.562-18C>T	XP_005250050.1:n.562-18C>T
NM_000420.3:c.526-18C>T MANE Select	NP_000411.1:n.526-18C>T