Canonical Allele Identifier: CA578626577

Gene: KEL

Linked Data

• dbSNP Id: rs1278948655
• gnomAD v2: 7-142655105-C-G
• gnomAD v3: 7-142958018-C-G
• gnomAD v4: 7-142958018-C-G
• MyVariant Identifiers: chr7:g.142655105C>G (hg19) ; chr7:g.142958018C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142958018C>G , CM000669.2:g.142958018C>G	GRCh38
NC_000007.13:g.142655105C>G , CM000669.1:g.142655105C>G	GRCh37
NC_000007.12:g.142365227C>G	NCBI36
NG_007492.1:g.9399G>C
NG_007492.2:g.9399G>C
NG_007492.3:g.9399G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.526-45G>C MANE Select	ENSP00000347409.2:n.526-45G>C
ENST00000467543.6:c.*378-45G>C	ENSP00000420011.2:n.*378-45G>C
ENST00000355265.6:c.526-45G>C	ENSP00000347409.2:n.526-45G>C
ENST00000467543.5:c.469-45G>C	ENSP00000420011.1:n.469-45G>C
ENST00000476829.5:c.525+286G>C	ENSP00000419889.1:n.525+286G>C
ENST00000479768.6:n.644-45G>C
ENST00000494148.1:n.125-45G>C
NM_000420.2:c.526-45G>C	NP_000411.1:n.526-45G>C
XM_005249993.2:c.562-45G>C	XP_005250050.1:n.562-45G>C
NM_000420.3:c.526-45G>C MANE Select	NP_000411.1:n.526-45G>C