Canonical Allele Identifier: CA974003

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 291515
• ClinVar RCV Id: RCV000348216 ; RCV000406086 ; RCV001590910
• dbSNP Id: rs375675171
• ExAC: 1:103400635 A / G
• gnomAD v2: 1-103400635-A-G
• gnomAD v3: 1-102935079-A-G
• gnomAD v4: 1-102935079-A-G
• MyVariant Identifiers: chr1:g.103400635A>G (hg19) ; chr1:g.102935079A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102935079A>G , CM000663.2:g.102935079A>G	GRCh38
NC_000001.10:g.103400635A>G , CM000663.1:g.103400635A>G	GRCh37
NC_000001.9:g.103173223A>G	NCBI36
NG_008033.1:g.178418T>C
NG_008033.2:g.178418T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3473T>C MANE Select	ENSP00000359114.3:p.Val1158Ala
ENST00000353414.8:c.3356T>C	ENSP00000302551.6:p.Val1119Ala
ENST00000358392.6:c.3509T>C	ENSP00000351163.2:p.Val1170Ala
ENST00000370096.7:c.3473T>C	ENSP00000359114.3:p.Val1158Ala
ENST00000512756.5:c.3125T>C	ENSP00000426533.1:p.Val1042Ala
ENST00000635193.1:c.2807T>C
NM_001190709.1:c.3356T>C	NP_001177638.1:p.Val1119Ala
NM_001854.3:c.3473T>C	NP_001845.3:p.Val1158Ala
NM_080629.2:c.3509T>C	NP_542196.2:p.Val1170Ala
NM_080630.3:c.3125T>C	NP_542197.3:p.Val1042Ala
XM_011540719.1:c.3473T>C	XP_011539021.1:p.Val1158Ala
XM_011540720.1:c.1706T>C	XP_011539022.1:p.Val569Ala
XM_011540721.1:c.1061T>C	XP_011539023.1:p.Val354Ala
NR_134980.1:n.3807T>C
XM_017000334.1:c.3626T>C	XP_016855823.1:p.Val1209Ala
XM_017000335.1:c.3620T>C	XP_016855824.1:p.Val1207Ala
XM_017000336.1:c.3626T>C	XP_016855825.1:p.Val1209Ala
XM_017000337.1:c.2024T>C	XP_016855826.1:p.Val675Ala
NM_001854.4:c.3473T>C MANE Select	NP_001845.3:p.Val1158Ala
NM_080630.4:c.3125T>C	NP_542197.3:p.Val1042Ala
NR_134980.2:n.3833T>C
NM_001190709.2:c.3356T>C	NP_001177638.1:p.Val1119Ala
NM_080629.3:c.3509T>C	NP_542196.2:p.Val1170Ala