Canonical Allele Identifier: CA524898624

Gene: COL11A1

Linked Data

• dbSNP Id: rs1465693569
• gnomAD v2: 1-103444691-G-C
• gnomAD v3: 1-102979135-G-C
• gnomAD v4: 1-102979135-G-C
• MyVariant Identifiers: chr1:g.103444691G>C (hg19) ; chr1:g.102979135G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102979135G>C , CM000663.2:g.102979135G>C	GRCh38
NC_000001.10:g.103444691G>C , CM000663.1:g.103444691G>C	GRCh37
NC_000001.9:g.103217279G>C	NCBI36
NG_008033.1:g.134362C>G
NG_008033.2:g.134362C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2611-31C>G MANE Select	ENSP00000359114.3:n.2611-31C>G
ENST00000353414.8:c.2494-31C>G	ENSP00000302551.6:n.2494-31C>G
ENST00000358392.6:c.2647-31C>G	ENSP00000351163.2:n.2647-31C>G
ENST00000370096.7:c.2611-31C>G	ENSP00000359114.3:n.2611-31C>G
ENST00000512756.5:c.2263-31C>G	ENSP00000426533.1:n.2263-31C>G
ENST00000635193.1:c.1945-31C>G
NM_001190709.1:c.2494-31C>G	NP_001177638.1:n.2494-31C>G
NM_001854.3:c.2611-31C>G	NP_001845.3:n.2611-31C>G
NM_080629.2:c.2647-31C>G	NP_542196.2:n.2647-31C>G
NM_080630.3:c.2263-31C>G	NP_542197.3:n.2263-31C>G
XM_011540719.1:c.2611-31C>G	XP_011539021.1:n.2611-31C>G
XM_011540720.1:c.844-31C>G	XP_011539022.1:n.844-31C>G
XM_011540721.1:c.199-31C>G	XP_011539023.1:n.199-31C>G
XR_946545.1:n.3025-31C>G
NR_134980.1:n.2945-31C>G
XM_017000334.1:c.2764-31C>G	XP_016855823.1:n.2764-31C>G
XM_017000335.1:c.2758-31C>G	XP_016855824.1:n.2758-31C>G
XM_017000336.1:c.2764-31C>G	XP_016855825.1:n.2764-31C>G
XM_017000337.1:c.1162-31C>G	XP_016855826.1:n.1162-31C>G
NM_001854.4:c.2611-31C>G MANE Select	NP_001845.3:n.2611-31C>G
NM_080630.4:c.2263-31C>G	NP_542197.3:n.2263-31C>G
NR_134980.2:n.2971-31C>G
NM_001190709.2:c.2494-31C>G	NP_001177638.1:n.2494-31C>G
NM_080629.3:c.2647-31C>G	NP_542196.2:n.2647-31C>G