Canonical Allele Identifier: CA4534534

Gene: KEL

Linked Data

• dbSNP Id: rs773753658
• ExAC: 7:142654924 G / A
• gnomAD v2: 7-142654924-G-A
• gnomAD v3: 7-142957837-G-A
• gnomAD v4: 7-142957837-G-A
• MyVariant Identifiers: chr7:g.142654924G>A (hg19) ; chr7:g.142957837G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957837G>A , CM000669.2:g.142957837G>A	GRCh38
NC_000007.13:g.142654924G>A , CM000669.1:g.142654924G>A	GRCh37
NC_000007.12:g.142365046G>A	NCBI36
NG_007492.1:g.9580C>T
NG_007492.2:g.9580C>T
NG_007492.3:g.9580C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.662C>T MANE Select	ENSP00000347409.2:p.Pro221Leu
ENST00000467543.6:c.*514C>T	ENSP00000420011.2:n.*514C>T
ENST00000355265.6:c.662C>T	ENSP00000347409.2:p.Pro221Leu
ENST00000467543.5:c.605C>T	ENSP00000420011.1:p.Pro202Leu
ENST00000476829.5:c.525+467C>T	ENSP00000419889.1:n.525+467C>T
ENST00000479768.6:n.780C>T
ENST00000494148.1:n.261C>T
NM_000420.2:c.662C>T	NP_000411.1:p.Pro221Leu
XM_005249993.2:c.698C>T	XP_005250050.1:p.Pro233Leu
NM_000420.3:c.662C>T MANE Select	NP_000411.1:p.Pro221Leu