Canonical Allele Identifier: CA974334

Gene: COL11A1

Linked Data

• dbSNP Id: rs748179954
• ExAC: 1:103444493 A / G
• gnomAD v2: 1-103444493-A-G
• gnomAD v4: 1-102978937-A-G
• MyVariant Identifiers: chr1:g.103444493A>G (hg19) ; chr1:g.102978937A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978937A>G , CM000663.2:g.102978937A>G	GRCh38
NC_000001.10:g.103444493A>G , CM000663.1:g.103444493A>G	GRCh37
NC_000001.9:g.103217081A>G	NCBI36
NG_008033.1:g.134560T>C
NG_008033.2:g.134560T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2656-24T>C MANE Select	ENSP00000359114.3:n.2656-24T>C
ENST00000353414.8:c.2539-24T>C	ENSP00000302551.6:n.2539-24T>C
ENST00000358392.6:c.2692-24T>C	ENSP00000351163.2:n.2692-24T>C
ENST00000370096.7:c.2656-24T>C	ENSP00000359114.3:n.2656-24T>C
ENST00000512756.5:c.2308-24T>C	ENSP00000426533.1:n.2308-24T>C
ENST00000635193.1:c.1990-24T>C
NM_001190709.1:c.2539-24T>C	NP_001177638.1:n.2539-24T>C
NM_001854.3:c.2656-24T>C	NP_001845.3:n.2656-24T>C
NM_080629.2:c.2692-24T>C	NP_542196.2:n.2692-24T>C
NM_080630.3:c.2308-24T>C	NP_542197.3:n.2308-24T>C
XM_011540719.1:c.2656-24T>C	XP_011539021.1:n.2656-24T>C
XM_011540720.1:c.889-24T>C	XP_011539022.1:n.889-24T>C
XM_011540721.1:c.244-24T>C	XP_011539023.1:n.244-24T>C
XR_946545.1:n.3070-24T>C
NR_134980.1:n.2990-24T>C
XM_017000334.1:c.2809-24T>C	XP_016855823.1:n.2809-24T>C
XM_017000335.1:c.2803-24T>C	XP_016855824.1:n.2803-24T>C
XM_017000336.1:c.2809-24T>C	XP_016855825.1:n.2809-24T>C
XM_017000337.1:c.1207-24T>C	XP_016855826.1:n.1207-24T>C
NM_001854.4:c.2656-24T>C MANE Select	NP_001845.3:n.2656-24T>C
NM_080630.4:c.2308-24T>C	NP_542197.3:n.2308-24T>C
NR_134980.2:n.3016-24T>C
NM_001190709.2:c.2539-24T>C	NP_001177638.1:n.2539-24T>C
NM_080629.3:c.2692-24T>C	NP_542196.2:n.2692-24T>C