Canonical Allele Identifier: CA369630339

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142654912A>G (hg19) ; chr7:g.142957825A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957825A>G , CM000669.2:g.142957825A>G	GRCh38
NC_000007.13:g.142654912A>G , CM000669.1:g.142654912A>G	GRCh37
NC_000007.12:g.142365034A>G	NCBI36
NG_007492.1:g.9592T>C
NG_007492.2:g.9592T>C
NG_007492.3:g.9592T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355265.7:c.672+2T>C MANE Select	ENSP00000347409.2:n.672+2T>C
ENST00000355265.6:c.672+2T>C	ENSP00000347409.2:n.672+2T>C
ENST00000476829.5:c.525+479T>C	ENSP00000419889.1:n.525+479T>C
ENST00000479768.6:n.790+2T>C
ENST00000494148.1:n.271+2T>C
NM_000420.2:c.672+2T>C	NP_000411.1:n.672+2T>C
XM_005249993.2:c.708+2T>C	XP_005250050.1:n.708+2T>C
NM_000420.3:c.672+2T>C MANE Select	NP_000411.1:n.672+2T>C