Canonical Allele Identifier: CA578626562
Gene: KEL HGNC NCBI

Linked Data

dbSNP Id: rs778509161
gnomAD v2: 7-142654902-T-C
gnomAD v3: 7-142957815-T-C
gnomAD v4: 7-142957815-T-C
MyVariant Identifiers: chr7:g.142654902T>C (hg19) chr7:g.142957815T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142957815T>C , CM000669.2:g.142957815T>C GRCh38
NC_000007.13:g.142654902T>C , CM000669.1:g.142654902T>C GRCh37
NC_000007.12:g.142365024T>C NCBI36
NG_007492.1:g.9602A>G
NG_007492.2:g.9602A>G
NG_007492.3:g.9602A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.672+12A>G MANE Select ENSP00000347409.2:n.672+12A>G
ENST00000355265.6:c.672+12A>G ENSP00000347409.2:n.672+12A>G
ENST00000476829.5:c.525+489A>G ENSP00000419889.1:n.525+489A>G
ENST00000479768.6:n.790+12A>G
ENST00000494148.1:n.271+12A>G
NM_000420.2:c.672+12A>G NP_000411.1:n.672+12A>G
XM_005249993.2:c.708+12A>G XP_005250050.1:n.708+12A>G
NM_000420.3:c.672+12A>G MANE Select NP_000411.1:n.672+12A>G
Search 100 bp 5'
Search 100 bp 3'