Canonical Allele Identifier: CA974294

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 595511
• ClinVar RCV Id: RCV000731074
• dbSNP Id: rs201183993
• ExAC: 1:103444260 G / A
• gnomAD v2: 1-103444260-G-A
• gnomAD v3: 1-102978704-G-A
• gnomAD v4: 1-102978704-G-A
• COSMIC: COSM5456057 ; COSM5456058
• MyVariant Identifiers: chr1:g.103444260G>A (hg19) ; chr1:g.102978704G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978704G>A , CM000663.2:g.102978704G>A	GRCh38
NC_000001.10:g.103444260G>A , CM000663.1:g.103444260G>A	GRCh37
NC_000001.9:g.103216848G>A	NCBI36
NG_008033.1:g.134793C>T
NG_008033.2:g.134793C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370096.9:c.2754+4C>T MANE Select	ENSP00000359114.3:n.2754+4C>T
ENST00000353414.8:c.2637+4C>T	ENSP00000302551.6:n.2637+4C>T
ENST00000358392.6:c.2790+4C>T	ENSP00000351163.2:n.2790+4C>T
ENST00000370096.7:c.2754+4C>T	ENSP00000359114.3:n.2754+4C>T
ENST00000512756.5:c.2406+4C>T	ENSP00000426533.1:n.2406+4C>T
ENST00000635193.1:c.2088+4C>T
NM_001190709.1:c.2637+4C>T	NP_001177638.1:n.2637+4C>T
NM_001854.3:c.2754+4C>T	NP_001845.3:n.2754+4C>T
NM_080629.2:c.2790+4C>T	NP_542196.2:n.2790+4C>T
NM_080630.3:c.2406+4C>T	NP_542197.3:n.2406+4C>T
XM_011540719.1:c.2754+4C>T	XP_011539021.1:n.2754+4C>T
XM_011540720.1:c.987+4C>T	XP_011539022.1:n.987+4C>T
XM_011540721.1:c.342+4C>T	XP_011539023.1:n.342+4C>T
XR_946545.1:n.3168+4C>T
NR_134980.1:n.3088+4C>T
XM_017000334.1:c.2907+4C>T	XP_016855823.1:n.2907+4C>T
XM_017000335.1:c.2901+4C>T	XP_016855824.1:n.2901+4C>T
XM_017000336.1:c.2907+4C>T	XP_016855825.1:n.2907+4C>T
XM_017000337.1:c.1305+4C>T	XP_016855826.1:n.1305+4C>T
NM_001854.4:c.2754+4C>T MANE Select	NP_001845.3:n.2754+4C>T
NM_080630.4:c.2406+4C>T	NP_542197.3:n.2406+4C>T
NR_134980.2:n.3114+4C>T
NM_001190709.2:c.2637+4C>T	NP_001177638.1:n.2637+4C>T
NM_080629.3:c.2790+4C>T	NP_542196.2:n.2790+4C>T