Canonical Allele Identifier: CA369630961

Gene: KEL

Linked Data

• gnomAD v4: 7-142957905-C-G
• MyVariant Identifiers: chr7:g.142654992C>G (hg19) ; chr7:g.142957905C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957905C>G , CM000669.2:g.142957905C>G	GRCh38
NC_000007.13:g.142654992C>G , CM000669.1:g.142654992C>G	GRCh37
NC_000007.12:g.142365114C>G	NCBI36
NG_007492.1:g.9512G>C
NG_007492.2:g.9512G>C
NG_007492.3:g.9512G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.594G>C MANE Select	ENSP00000347409.2:p.Met198Ile
ENST00000467543.6:c.*446G>C	ENSP00000420011.2:n.*446G>C
ENST00000355265.6:c.594G>C	ENSP00000347409.2:p.Met198Ile
ENST00000467543.5:c.537G>C	ENSP00000420011.1:p.Met179Ile
ENST00000476829.5:c.525+399G>C	ENSP00000419889.1:n.525+399G>C
ENST00000479768.6:n.712G>C
ENST00000494148.1:n.193G>C
NM_000420.2:c.594G>C	NP_000411.1:p.Met198Ile
XM_005249993.2:c.630G>C	XP_005250050.1:p.Met210Ile
NM_000420.3:c.594G>C MANE Select	NP_000411.1:p.Met198Ile