Canonical Allele Identifier: CA3882043

Gene: COL9A1

Linked Data

• ClinVar Variation Id: 258350
• ClinVar RCV Id: RCV000246226 ; RCV001610620 ; RCV001660211
• dbSNP Id: rs701690
• ExAC: 6:70963156 T / G
• gnomAD v2: 6-70963156-T-G
• gnomAD v3: 6-70253453-T-G
• gnomAD v4: 6-70253453-T-G
• MyVariant Identifiers: chr6:g.70963156T>G (hg19) ; chr6:g.70253453T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.70253453T>G , CM000668.2:g.70253453T>G	GRCh38
NC_000006.11:g.70963156T>G , CM000668.1:g.70963156T>G	GRCh37
NC_000006.10:g.71019877T>G	NCBI36
NG_011654.1:g.54631A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683980.2:c.1021-24A>C	ENSP00000506990.1:n.1021-24A>C
ENST00000360859.12:n.406-24A>C
ENST00000493682.7:n.1714-24A>C
ENST00000683602.1:n.2457-24A>C
ENST00000683758.1:c.991-24A>C	ENSP00000508147.1:n.991-24A>C
ENST00000683980.1:c.1021-24A>C	ENSP00000506990.1:n.1021-24A>C
ENST00000684176.1:n.1062-24A>C
ENST00000320755.12:c.991-24A>C	ENSP00000315252.7:n.991-24A>C
ENST00000357250.11:c.1720-24A>C MANE Select	ENSP00000349790.6:n.1720-24A>C
ENST00000360859.11:n.406-24A>C
ENST00000644493.1:c.*757-24A>C	ENSP00000495638.1:n.*757-24A>C
ENST00000320755.11:c.991-24A>C	ENSP00000315252.7:n.991-24A>C
ENST00000357250.10:c.1720-24A>C	ENSP00000349790.6:n.1720-24A>C
ENST00000360859.10:n.366-24A>C
ENST00000447041.6:n.74-24A>C
ENST00000489611.5:n.812-24A>C
ENST00000489861.2:n.137-24A>C
ENST00000493682.6:n.693-24A>C
NM_001851.4:c.1720-24A>C	NP_001842.3:n.1720-24A>C
NM_078485.3:c.991-24A>C	NP_511040.2:n.991-24A>C
XM_011535429.1:c.1750-24A>C	XP_011533731.1:n.1750-24A>C
XM_011535430.1:c.1021-24A>C	XP_011533732.1:n.1021-24A>C
XM_011535431.1:c.412-24A>C	XP_011533733.1:n.412-24A>C
XM_011535429.3:c.1750-24A>C	XP_011533731.1:n.1750-24A>C
XM_011535430.3:c.1021-24A>C	XP_011533732.1:n.1021-24A>C
XM_017010246.2:c.1201-24A>C	XP_016865735.1:n.1201-24A>C
XM_017010247.2:c.469-24A>C	XP_016865736.1:n.469-24A>C
NM_001377289.1:c.1021-24A>C	NP_001364218.1:n.1021-24A>C
NM_001377290.1:c.991-24A>C	NP_001364219.1:n.991-24A>C
NM_001851.5:c.1720-24A>C	NP_001842.3:n.1720-24A>C
NM_078485.4:c.991-24A>C	NP_511040.2:n.991-24A>C
NR_165185.1:n.1241-24A>C
NM_001851.6:c.1720-24A>C MANE Select	NP_001842.3:n.1720-24A>C