Canonical Allele Identifier: CA369630612

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142654949G>C (hg19) ; chr7:g.142957862G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957862G>C , CM000669.2:g.142957862G>C	GRCh38
NC_000007.13:g.142654949G>C , CM000669.1:g.142654949G>C	GRCh37
NC_000007.12:g.142365071G>C	NCBI36
NG_007492.1:g.9555C>G
NG_007492.2:g.9555C>G
NG_007492.3:g.9555C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.637C>G MANE Select	ENSP00000347409.2:p.Pro213Ala
ENST00000467543.6:c.*489C>G	ENSP00000420011.2:n.*489C>G
ENST00000355265.6:c.637C>G	ENSP00000347409.2:p.Pro213Ala
ENST00000467543.5:c.580C>G	ENSP00000420011.1:p.Pro194Ala
ENST00000476829.5:c.525+442C>G	ENSP00000419889.1:n.525+442C>G
ENST00000479768.6:n.755C>G
ENST00000494148.1:n.236C>G
NM_000420.2:c.637C>G	NP_000411.1:p.Pro213Ala
XM_005249993.2:c.673C>G	XP_005250050.1:p.Pro225Ala
NM_000420.3:c.637C>G MANE Select	NP_000411.1:p.Pro213Ala