Canonical Allele Identifier: CA578626568

Gene: KEL

Linked Data

• dbSNP Id: rs1488561607
• gnomAD v2: 7-142655069-G-A
• gnomAD v4: 7-142957982-G-A
• MyVariant Identifiers: chr7:g.142655069G>A (hg19) ; chr7:g.142957982G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957982G>A , CM000669.2:g.142957982G>A	GRCh38
NC_000007.13:g.142655069G>A , CM000669.1:g.142655069G>A	GRCh37
NC_000007.12:g.142365191G>A	NCBI36
NG_007492.1:g.9435C>T
NG_007492.2:g.9435C>T
NG_007492.3:g.9435C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.526-9C>T MANE Select	ENSP00000347409.2:n.526-9C>T
ENST00000467543.6:c.*378-9C>T	ENSP00000420011.2:n.*378-9C>T
ENST00000355265.6:c.526-9C>T	ENSP00000347409.2:n.526-9C>T
ENST00000467543.5:c.469-9C>T	ENSP00000420011.1:n.469-9C>T
ENST00000476829.5:c.525+322C>T	ENSP00000419889.1:n.525+322C>T
ENST00000479768.6:n.644-9C>T
ENST00000494148.1:n.125-9C>T
NM_000420.2:c.526-9C>T	NP_000411.1:n.526-9C>T
XM_005249993.2:c.562-9C>T	XP_005250050.1:n.562-9C>T
NM_000420.3:c.526-9C>T MANE Select	NP_000411.1:n.526-9C>T