Canonical Allele Identifier: CA210862
Gene: COLEC11 HGNC NCBI

Linked Data

ClinVar Variation Id: 30970
dbSNP Id: rs387907076
gnomAD v2: 2-3691502-G-A
gnomAD v3: 2-3643912-G-A
gnomAD v4: 2-3643912-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.3643912G>A , CM000664.2:g.3643912G>A GRCh38
NC_000002.11:g.3691502G>A , CM000664.1:g.3691502G>A GRCh37
NC_000002.10:g.3669377G>A NCBI36
NG_031954.1:g.54081G>A , LRG_350:g.54081G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000349077.9:c.610G>A MANE Select ENSP00000339168.4:p.Gly204Ser
ENST00000236693.11:c.601G>A ENSP00000236693.7:p.Gly201Ser
ENST00000349077.8:c.610G>A ENSP00000339168.4:p.Gly204Ser
ENST00000382062.6:c.538G>A ENSP00000371494.2:p.Gly180Ser
ENST00000402794.4:c.460G>A ENSP00000384882.1:p.Gly154Ser
ENST00000402922.2:c.460G>A ENSP00000385653.1:p.Gly154Ser
ENST00000403096.7:c.532G>A ENSP00000385130.3:p.Gly178Ser
ENST00000404205.5:c.388G>A ENSP00000385827.1:p.Gly130Ser
ENST00000416132.5:c.*452G>A ENSP00000410919.1:n.*452G>A
ENST00000418971.6:c.652G>A ENSP00000411770.2:p.Gly218Ser
ENST00000460971.5:n.706G>A
ENST00000487365.5:n.778G>A
NM_001255982.1:c.538G>A NP_001242911.1:p.Gly180Ser
NM_001255983.1:c.538G>A NP_001242912.1:p.Gly180Ser
NM_001255984.1:c.466G>A NP_001242913.1:p.Gly156Ser
NM_001255985.1:c.652G>A NP_001242914.1:p.Gly218Ser
NM_001255986.1:c.532G>A NP_001242915.1:p.Gly178Ser
NM_001255987.1:c.460G>A NP_001242916.1:p.Gly154Ser
NM_001255988.1:c.460G>A NP_001242917.1:p.Gly154Ser
NM_001255989.1:c.388G>A NP_001242918.1:p.Gly130Ser
NM_024027.4:c.610G>A , LRG_350t1:c.610G>A NP_076932.1:p.Gly204Ser
NM_199235.2:c.601G>A NP_954705.1:p.Gly201Ser
NR_045659.1:n.1166G>A
XM_005263853.3:c.580G>A XP_005263910.1:p.Gly194Ser
XM_006711897.2:c.580G>A XP_006711960.1:p.Gly194Ser
XM_005263853.4:c.580G>A XP_005263910.1:p.Gly194Ser
XM_006711897.3:c.580G>A XP_006711960.1:p.Gly194Ser
NM_001255982.2:c.538G>A NP_001242911.1:p.Gly180Ser
NM_001255984.2:c.466G>A NP_001242913.1:p.Gly156Ser
NM_024027.5:c.610G>A MANE Select NP_076932.1:p.Gly204Ser
NM_199235.3:c.601G>A NP_954705.1:p.Gly201Ser
NR_045659.2:n.886G>A
NM_001255983.2:c.538G>A NP_001242912.1:p.Gly180Ser