Canonical Allele Identifier: CA341161356

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 1482250
• ClinVar RCV Id: RCV001995544
• dbSNP Id: rs1459686009
• gnomAD v2: 1-103380297-T-C
• gnomAD v4: 1-102914741-T-C
• MyVariant Identifiers: chr1:g.103380297T>C (hg19) ; chr1:g.102914741T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102914741T>C , CM000663.2:g.102914741T>C	GRCh38
NC_000001.10:g.103380297T>C , CM000663.1:g.103380297T>C	GRCh37
NC_000001.9:g.103152885T>C	NCBI36
NG_008033.1:g.198756A>G
NG_008033.2:g.198756A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3887A>G MANE Select	ENSP00000359114.3:p.Lys1296Arg
ENST00000353414.8:c.3770A>G	ENSP00000302551.6:p.Lys1257Arg
ENST00000358392.6:c.3923A>G	ENSP00000351163.2:p.Lys1308Arg
ENST00000370096.7:c.3887A>G	ENSP00000359114.3:p.Lys1296Arg
ENST00000512756.5:c.3539A>G	ENSP00000426533.1:p.Lys1180Arg
ENST00000635193.1:c.3221A>G
NM_001190709.1:c.3770A>G	NP_001177638.1:p.Lys1257Arg
NM_001854.3:c.3887A>G	NP_001845.3:p.Lys1296Arg
NM_080629.2:c.3923A>G	NP_542196.2:p.Lys1308Arg
NM_080630.3:c.3539A>G	NP_542197.3:p.Lys1180Arg
XM_011540719.1:c.3887A>G	XP_011539021.1:p.Lys1296Arg
XM_011540720.1:c.2120A>G	XP_011539022.1:p.Lys707Arg
XM_011540721.1:c.1475A>G	XP_011539023.1:p.Lys492Arg
NR_134980.1:n.4221A>G
XM_017000334.1:c.4040A>G	XP_016855823.1:p.Lys1347Arg
XM_017000335.1:c.4034A>G	XP_016855824.1:p.Lys1345Arg
XM_017000336.1:c.4040A>G	XP_016855825.1:p.Lys1347Arg
XM_017000337.1:c.2438A>G	XP_016855826.1:p.Lys813Arg
NM_001854.4:c.3887A>G MANE Select	NP_001845.3:p.Lys1296Arg
NM_080630.4:c.3539A>G	NP_542197.3:p.Lys1180Arg
NR_134980.2:n.4247A>G
NM_001190709.2:c.3770A>G	NP_001177638.1:p.Lys1257Arg
NM_080629.3:c.3923A>G	NP_542196.2:p.Lys1308Arg