Canonical Allele Identifier: CA974353

Gene: COL11A1

Linked Data

• dbSNP Id: rs772069239
• ExAC: 1:103444670 A / G
• gnomAD v2: 1-103444670-A-G
• gnomAD v4: 1-102979114-A-G
• MyVariant Identifiers: chr1:g.103444670A>G (hg19) ; chr1:g.102979114A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102979114A>G , CM000663.2:g.102979114A>G	GRCh38
NC_000001.10:g.103444670A>G , CM000663.1:g.103444670A>G	GRCh37
NC_000001.9:g.103217258A>G	NCBI36
NG_008033.1:g.134383T>C
NG_008033.2:g.134383T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2611-10T>C MANE Select	ENSP00000359114.3:n.2611-10T>C
ENST00000353414.8:c.2494-10T>C	ENSP00000302551.6:n.2494-10T>C
ENST00000358392.6:c.2647-10T>C	ENSP00000351163.2:n.2647-10T>C
ENST00000370096.7:c.2611-10T>C	ENSP00000359114.3:n.2611-10T>C
ENST00000512756.5:c.2263-10T>C	ENSP00000426533.1:n.2263-10T>C
ENST00000635193.1:c.1945-10T>C
NM_001190709.1:c.2494-10T>C	NP_001177638.1:n.2494-10T>C
NM_001854.3:c.2611-10T>C	NP_001845.3:n.2611-10T>C
NM_080629.2:c.2647-10T>C	NP_542196.2:n.2647-10T>C
NM_080630.3:c.2263-10T>C	NP_542197.3:n.2263-10T>C
XM_011540719.1:c.2611-10T>C	XP_011539021.1:n.2611-10T>C
XM_011540720.1:c.844-10T>C	XP_011539022.1:n.844-10T>C
XM_011540721.1:c.199-10T>C	XP_011539023.1:n.199-10T>C
XR_946545.1:n.3025-10T>C
NR_134980.1:n.2945-10T>C
XM_017000334.1:c.2764-10T>C	XP_016855823.1:n.2764-10T>C
XM_017000335.1:c.2758-10T>C	XP_016855824.1:n.2758-10T>C
XM_017000336.1:c.2764-10T>C	XP_016855825.1:n.2764-10T>C
XM_017000337.1:c.1162-10T>C	XP_016855826.1:n.1162-10T>C
NM_001854.4:c.2611-10T>C MANE Select	NP_001845.3:n.2611-10T>C
NM_080630.4:c.2263-10T>C	NP_542197.3:n.2263-10T>C
NR_134980.2:n.2971-10T>C
NM_001190709.2:c.2494-10T>C	NP_001177638.1:n.2494-10T>C
NM_080629.3:c.2647-10T>C	NP_542196.2:n.2647-10T>C