Canonical Allele Identifier: CA601700179

Gene: C11orf65

Linked Data

• dbSNP Id: rs1215310636
• gnomAD v2: 11-108240023-A-G
• gnomAD v3: 11-108369296-A-G
• gnomAD v4: 11-108369296-A-G
• MyVariant Identifiers: chr11:g.108240023A>G (hg19) ; chr11:g.108369296A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108369296A>G , CM000673.2:g.108369296A>G	GRCh38
NC_000011.9:g.108240023A>G , CM000673.1:g.108240023A>G	GRCh37
NC_000011.8:g.107745233A>G	NCBI36
NG_009830.1:g.151465A>G , LRG_135:g.151465A>G
NG_054724.1:g.105537T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524755.5:c.226+23912T>C
ENST00000525729.5:c.640+16624T>C	ENSP00000433395.1:n.640+16624T>C
ENST00000526725.1:n.271+23912T>C
ENST00000527531.5:c.*2-13187T>C	ENSP00000431706.1:n.*2-13187T>C
ENST00000615746.4:c.*2-13187T>C	ENSP00000483537.1:n.*2-13187T>C
XM_005271414.3:c.787+16624T>C	XP_005271471.1:n.787+16624T>C
XM_005271415.3:c.731+23912T>C	XP_005271472.1:n.731+23912T>C
XM_011542640.1:c.787+16624T>C	XP_011540942.1:n.787+16624T>C
XM_011542642.1:c.732-20223T>C	XP_011540944.1:n.732-20223T>C
XM_011542643.1:c.731+23912T>C	XP_011540945.1:n.731+23912T>C
NM_001330368.1:c.640+16624T>C	NP_001317297.1:n.640+16624T>C
NM_001351110.1:c.694+16624T>C	NP_001338039.1:n.694+16624T>C
NR_147053.2:n.1107-13187T>C
XM_005271414.4:c.787+16624T>C	XP_005271471.1:n.787+16624T>C
XM_005271415.4:c.731+23912T>C	XP_005271472.1:n.731+23912T>C
XM_011542640.2:c.787+16624T>C	XP_011540942.1:n.787+16624T>C
XM_011542643.2:c.731+23912T>C	XP_011540945.1:n.731+23912T>C
XM_017017247.1:c.903+13764T>C	XP_016872736.1:n.903+13764T>C
NM_001330368.2:c.640+16624T>C	NP_001317297.1:n.640+16624T>C
NM_001351110.2:c.694+16624T>C	NP_001338039.1:n.694+16624T>C
NR_147053.3:n.1105-13187T>C