Canonical Allele Identifier: CA221639249

Gene: CKAP5

Linked Data

• dbSNP Id: rs988221386
• gnomAD v2: 11-46849463-G-C
• gnomAD v3: 11-46827912-G-C
• gnomAD v4: 11-46827912-G-C
• MyVariant Identifiers: chr11:g.46849463G>C (hg19) ; chr11:g.46827912G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46827912G>C , CM000673.2:g.46827912G>C	GRCh38
NC_000011.9:g.46849463G>C , CM000673.1:g.46849463G>C	GRCh37
NC_000011.8:g.46806039G>C	NCBI36
NG_029924.1:g.23397C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529230.6:c.-37-6644C>G MANE Select	ENSP00000432768.1:n.-37-6644C>G
ENST00000312055.9:c.-37-6644C>G	ENSP00000310227.5:n.-37-6644C>G
ENST00000525248.1:n.78-6664C>G
ENST00000529230.5:c.-37-6644C>G	ENSP00000432768.1:n.-37-6644C>G
NM_001008938.3:c.-37-6644C>G	NP_001008938.1:n.-37-6644C>G
NM_014756.3:c.-37-6644C>G	NP_055571.2:n.-37-6644C>G
NM_001008938.4:c.-37-6644C>G MANE Select	NP_001008938.1:n.-37-6644C>G
NM_014756.4:c.-37-6644C>G	NP_055571.2:n.-37-6644C>G