Canonical Allele Identifier: CA228387195

Gene: C11orf65

Linked Data

• dbSNP Id: rs186519484
• gnomAD v2: 11-108239978-G-A
• gnomAD v3: 11-108369251-G-A
• gnomAD v4: 11-108369251-G-A
• MyVariant Identifiers: chr11:g.108239978G>A (hg19) ; chr11:g.108369251G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108369251G>A , CM000673.2:g.108369251G>A	GRCh38
NC_000011.9:g.108239978G>A , CM000673.1:g.108239978G>A	GRCh37
NC_000011.8:g.107745188G>A	NCBI36
NG_009830.1:g.151420G>A , LRG_135:g.151420G>A
NG_054724.1:g.105582C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524755.5:c.226+23957C>T
ENST00000525729.5:c.640+16669C>T	ENSP00000433395.1:n.640+16669C>T
ENST00000526725.1:n.271+23957C>T
ENST00000527531.5:c.*2-13142C>T	ENSP00000431706.1:n.*2-13142C>T
ENST00000615746.4:c.*2-13142C>T	ENSP00000483537.1:n.*2-13142C>T
XM_005271414.3:c.787+16669C>T	XP_005271471.1:n.787+16669C>T
XM_005271415.3:c.731+23957C>T	XP_005271472.1:n.731+23957C>T
XM_011542640.1:c.787+16669C>T	XP_011540942.1:n.787+16669C>T
XM_011542642.1:c.732-20178C>T	XP_011540944.1:n.732-20178C>T
XM_011542643.1:c.731+23957C>T	XP_011540945.1:n.731+23957C>T
NM_001330368.1:c.640+16669C>T	NP_001317297.1:n.640+16669C>T
NM_001351110.1:c.694+16669C>T	NP_001338039.1:n.694+16669C>T
NR_147053.2:n.1107-13142C>T
XM_005271414.4:c.787+16669C>T	XP_005271471.1:n.787+16669C>T
XM_005271415.4:c.731+23957C>T	XP_005271472.1:n.731+23957C>T
XM_011542640.2:c.787+16669C>T	XP_011540942.1:n.787+16669C>T
XM_011542643.2:c.731+23957C>T	XP_011540945.1:n.731+23957C>T
XM_017017247.1:c.903+13809C>T	XP_016872736.1:n.903+13809C>T
NM_001330368.2:c.640+16669C>T	NP_001317297.1:n.640+16669C>T
NM_001351110.2:c.694+16669C>T	NP_001338039.1:n.694+16669C>T
NR_147053.3:n.1105-13142C>T