Canonical Allele Identifier: CA10639175

Gene: CABP4

Linked Data

• ClinVar Variation Id: 305663
• ClinVar RCV Id: RCV000361219 ; RCV001683236
• dbSNP Id: rs1790736
• gnomAD v2: 11-67226249-T-G
• gnomAD v3: 11-67458778-T-G
• gnomAD v4: 11-67458778-T-G
• MyVariant Identifiers: chr11:g.67226249T>G (hg19) ; chr11:g.67458778T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67458778T>G , CM000673.2:g.67458778T>G	GRCh38
NC_000011.9:g.67226249T>G , CM000673.1:g.67226249T>G	GRCh37
NC_000011.8:g.66982825T>G	NCBI36
NG_021211.1:g.8432T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325656.7:c.*119T>G MANE Select	ENSP00000324960.5:n.*119T>G
ENST00000325656.6:c.*119T>G	ENSP00000324960.5:n.*119T>G
ENST00000438189.6:c.*119T>G	ENSP00000401555.2:n.*119T>G
NM_001300895.1:c.*119T>G	NP_001287824.1:n.*119T>G
NM_001300896.1:c.*119T>G	NP_001287825.1:n.*119T>G
NM_145200.3:c.*119T>G	NP_660201.1:n.*119T>G
XM_011545181.1:c.*119T>G	XP_011543483.1:n.*119T>G
XM_011545182.1:c.*119T>G	XP_011543484.1:n.*119T>G
XM_011545183.1:c.*119T>G	XP_011543485.1:n.*119T>G
XM_011545184.1:c.*119T>G	XP_011543486.1:n.*119T>G
XM_011545181.2:c.*119T>G	XP_011543483.1:n.*119T>G
XM_011545182.2:c.*119T>G	XP_011543484.1:n.*119T>G
XM_011545183.2:c.*119T>G	XP_011543485.1:n.*119T>G
XM_017018025.1:c.*119T>G	XP_016873514.1:n.*119T>G
XM_024448615.1:c.*119T>G	XP_024304383.1:n.*119T>G
XM_024448616.1:c.*119T>G	XP_024304384.1:n.*119T>G
NM_001300895.2:c.*119T>G	NP_001287824.1:n.*119T>G
NM_001300896.2:c.*119T>G	NP_001287825.1:n.*119T>G
NM_145200.4:c.*119T>G	NP_660201.1:n.*119T>G
NM_001300895.3:c.*119T>G	NP_001287824.1:n.*119T>G
NM_001300896.3:c.*119T>G	NP_001287825.1:n.*119T>G
NM_001379183.1:c.*119T>G	NP_001366112.1:n.*119T>G
NM_145200.5:c.*119T>G MANE Select	NP_660201.1:n.*119T>G
NR_166529.1:n.842T>G