Canonical Allele Identifier: CA369630447

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142654925G>C (hg19) ; chr7:g.142957838G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957838G>C , CM000669.2:g.142957838G>C	GRCh38
NC_000007.13:g.142654925G>C , CM000669.1:g.142654925G>C	GRCh37
NC_000007.12:g.142365047G>C	NCBI36
NG_007492.1:g.9579C>G
NG_007492.2:g.9579C>G
NG_007492.3:g.9579C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.661C>G MANE Select	ENSP00000347409.2:p.Pro221Ala
ENST00000467543.6:c.*513C>G	ENSP00000420011.2:n.*513C>G
ENST00000355265.6:c.661C>G	ENSP00000347409.2:p.Pro221Ala
ENST00000467543.5:c.604C>G	ENSP00000420011.1:p.Pro202Ala
ENST00000476829.5:c.525+466C>G	ENSP00000419889.1:n.525+466C>G
ENST00000479768.6:n.779C>G
ENST00000494148.1:n.260C>G
NM_000420.2:c.661C>G	NP_000411.1:p.Pro221Ala
XM_005249993.2:c.697C>G	XP_005250050.1:p.Pro233Ala
NM_000420.3:c.661C>G MANE Select	NP_000411.1:p.Pro221Ala