Canonical Allele Identifier: CA168203664

Gene: KEL

Linked Data

• dbSNP Id: rs8175976
• gnomAD v2: 7-142655113-C-G
• gnomAD v3: 7-142958026-C-G
• gnomAD v4: 7-142958026-C-G
• MyVariant Identifiers: chr7:g.142655113C>G (hg19) ; chr7:g.142958026C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142958026C>G , CM000669.2:g.142958026C>G	GRCh38
NC_000007.13:g.142655113C>G , CM000669.1:g.142655113C>G	GRCh37
NC_000007.12:g.142365235C>G	NCBI36
NG_007492.1:g.9391G>C
NG_007492.2:g.9391G>C
NG_007492.3:g.9391G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.526-53G>C MANE Select	ENSP00000347409.2:n.526-53G>C
ENST00000467543.6:c.*378-53G>C	ENSP00000420011.2:n.*378-53G>C
ENST00000355265.6:c.526-53G>C	ENSP00000347409.2:n.526-53G>C
ENST00000467543.5:c.469-53G>C	ENSP00000420011.1:n.469-53G>C
ENST00000476829.5:c.525+278G>C	ENSP00000419889.1:n.525+278G>C
ENST00000479768.6:n.644-53G>C
ENST00000494148.1:n.125-53G>C
NM_000420.2:c.526-53G>C	NP_000411.1:n.526-53G>C
XM_005249993.2:c.562-53G>C	XP_005250050.1:n.562-53G>C
NM_000420.3:c.526-53G>C MANE Select	NP_000411.1:n.526-53G>C