Canonical Allele Identifier: CA10607205

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 291476
• ClinVar RCV Id: RCV000293782 ; RCV000351064 ; RCV001778882
• dbSNP Id: rs190577885
• gnomAD v2: 1-103342372-C-T
• gnomAD v3: 1-102876816-C-T
• gnomAD v4: 1-102876816-C-T
• MyVariant Identifiers: chr1:g.103342372C>T (hg19) ; chr1:g.102876816C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102876816C>T , CM000663.2:g.102876816C>T	GRCh38
NC_000001.10:g.103342372C>T , CM000663.1:g.103342372C>T	GRCh37
NC_000001.9:g.103114960C>T	NCBI36
NG_008033.1:g.236681G>A
NG_008033.2:g.236681G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.*1203G>A MANE Select	ENSP00000359114.3:n.*1203G>A
ENST00000353414.8:c.*1203G>A	ENSP00000302551.6:n.*1203G>A
ENST00000358392.6:c.*1203G>A	ENSP00000351163.2:n.*1203G>A
ENST00000370096.7:c.*1203G>A	ENSP00000359114.3:n.*1203G>A
NM_001190709.1:c.*1203G>A	NP_001177638.1:n.*1203G>A
NM_001854.3:c.*1203G>A	NP_001845.3:n.*1203G>A
NM_080629.2:c.*1203G>A	NP_542196.2:n.*1203G>A
NM_080630.3:c.*1203G>A	NP_542197.3:n.*1203G>A
XM_011540720.1:c.*1203G>A	XP_011539022.1:n.*1203G>A
XM_011540721.1:c.*1203G>A	XP_011539023.1:n.*1203G>A
NR_134980.1:n.6958G>A
XM_017000334.1:c.*1203G>A	XP_016855823.1:n.*1203G>A
NM_001854.4:c.*1203G>A MANE Select	NP_001845.3:n.*1203G>A
NM_080630.4:c.*1203G>A	NP_542197.3:n.*1203G>A
NR_134980.2:n.6984G>A
NM_001190709.2:c.*1203G>A	NP_001177638.1:n.*1203G>A
NM_080629.3:c.*1203G>A	NP_542196.2:n.*1203G>A