Canonical Allele Identifier: CA974147

Gene: COL11A1

Linked Data

• dbSNP Id: rs551254277
• ExAC: 1:103427499 G / C
• gnomAD v2: 1-103427499-G-C
• gnomAD v3: 1-102961943-G-C
• gnomAD v4: 1-102961943-G-C
• MyVariant Identifiers: chr1:g.103427499G>C (hg19) ; chr1:g.102961943G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102961943G>C , CM000663.2:g.102961943G>C	GRCh38
NC_000001.10:g.103427499G>C , CM000663.1:g.103427499G>C	GRCh37
NC_000001.9:g.103200087G>C	NCBI36
NG_008033.1:g.151554C>G
NG_008033.2:g.151554C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3115-24C>G MANE Select	ENSP00000359114.3:n.3115-24C>G
ENST00000353414.8:c.2998-24C>G	ENSP00000302551.6:n.2998-24C>G
ENST00000358392.6:c.3151-24C>G	ENSP00000351163.2:n.3151-24C>G
ENST00000370096.7:c.3115-24C>G	ENSP00000359114.3:n.3115-24C>G
ENST00000465209.1:n.123-24C>G
ENST00000512756.5:c.2767-24C>G	ENSP00000426533.1:n.2767-24C>G
ENST00000635193.1:c.2449-24C>G
NM_001190709.1:c.2998-24C>G	NP_001177638.1:n.2998-24C>G
NM_001854.3:c.3115-24C>G	NP_001845.3:n.3115-24C>G
NM_080629.2:c.3151-24C>G	NP_542196.2:n.3151-24C>G
NM_080630.3:c.2767-24C>G	NP_542197.3:n.2767-24C>G
XM_011540719.1:c.3115-24C>G	XP_011539021.1:n.3115-24C>G
XM_011540720.1:c.1348-24C>G	XP_011539022.1:n.1348-24C>G
XM_011540721.1:c.703-24C>G	XP_011539023.1:n.703-24C>G
NR_134980.1:n.3449-24C>G
XM_017000334.1:c.3268-24C>G	XP_016855823.1:n.3268-24C>G
XM_017000335.1:c.3262-24C>G	XP_016855824.1:n.3262-24C>G
XM_017000336.1:c.3268-24C>G	XP_016855825.1:n.3268-24C>G
XM_017000337.1:c.1666-24C>G	XP_016855826.1:n.1666-24C>G
NM_001854.4:c.3115-24C>G MANE Select	NP_001845.3:n.3115-24C>G
NM_080630.4:c.2767-24C>G	NP_542197.3:n.2767-24C>G
NR_134980.2:n.3475-24C>G
NM_001190709.2:c.2998-24C>G	NP_001177638.1:n.2998-24C>G
NM_080629.3:c.3151-24C>G	NP_542196.2:n.3151-24C>G