Canonical Allele Identifier: CA975026

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 291536
• ClinVar RCV Id: RCV000295627 ; RCV000389895 ; RCV000933405
• dbSNP Id: rs201585594
• ExAC: 1:103484404 G / A
• gnomAD v2: 1-103484404-G-A
• gnomAD v3: 1-103018848-G-A
• gnomAD v4: 1-103018848-G-A
• MyVariant Identifiers: chr1:g.103484404G>A (hg19) ; chr1:g.103018848G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103018848G>A , CM000663.2:g.103018848G>A	GRCh38
NC_000001.10:g.103484404G>A , CM000663.1:g.103484404G>A	GRCh37
NC_000001.9:g.103256992G>A	NCBI36
NG_008033.1:g.94649C>T
NG_008033.2:g.94649C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.1320C>T MANE Select	ENSP00000359114.3:p.Val440=
ENST00000461720.6:c.1473C>T	ENSP00000494909.1:p.Val491=
ENST00000644186.1:c.1320C>T	ENSP00000493821.1:p.Val440=
ENST00000645458.1:c.1320C>T	ENSP00000494179.1:p.Val440=
ENST00000647280.1:c.1320C>T	ENSP00000494583.1:p.Val440=
ENST00000353414.8:c.1203C>T	ENSP00000302551.6:p.Val401=
ENST00000358392.6:c.1356C>T	ENSP00000351163.2:p.Val452=
ENST00000370096.7:c.1320C>T	ENSP00000359114.3:p.Val440=
ENST00000427239.5:c.1356C>T	ENSP00000408640.1:p.Val452=
ENST00000512756.5:c.972C>T	ENSP00000426533.1:p.Val324=
ENST00000635193.1:c.638C>T
NM_001190709.1:c.1203C>T	NP_001177638.1:p.Val401=
NM_001854.3:c.1320C>T	NP_001845.3:p.Val440=
NM_080629.2:c.1356C>T	NP_542196.2:p.Val452=
NM_080630.3:c.972C>T	NP_542197.3:p.Val324=
XM_011540719.1:c.1320C>T	XP_011539021.1:p.Val440=
XM_011540721.1:c.-1109C>T	XP_011539023.1:n.-1109C>T
XR_946545.1:n.1718C>T
NR_134980.1:n.1638C>T
XM_017000334.1:c.1473C>T	XP_016855823.1:p.Val491=
XM_017000335.1:c.1467C>T	XP_016855824.1:p.Val489=
XM_017000336.1:c.1473C>T	XP_016855825.1:p.Val491=
XM_017000337.1:c.-176C>T	XP_016855826.1:n.-176C>T
NM_001854.4:c.1320C>T MANE Select	NP_001845.3:p.Val440=
NM_080630.4:c.972C>T	NP_542197.3:p.Val324=
NR_134980.2:n.1664C>T
NM_001190709.2:c.1203C>T	NP_001177638.1:p.Val401=
NM_080629.3:c.1356C>T	NP_542196.2:p.Val452=