Canonical Allele Identifier: CA973425

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 291497
• ClinVar RCV Id: RCV000306183 ; RCV000353979 ; RCV001569059
• dbSNP Id: rs3753842
• ExAC: 1:103352502 C / T
• gnomAD v2: 1-103352502-C-T
• gnomAD v3: 1-102886946-C-T
• gnomAD v4: 1-102886946-C-T
• COSMIC: COSM462491 ; COSM462492
• MyVariant Identifiers: chr1:g.103352502C>T (hg19) ; chr1:g.102886946C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102886946C>T , CM000663.2:g.102886946C>T	GRCh38
NC_000001.10:g.103352502C>T , CM000663.1:g.103352502C>T	GRCh37
NC_000001.9:g.103125090C>T	NCBI36
NG_008033.1:g.226551G>A
NG_008033.2:g.226551G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.4719G>A MANE Select	ENSP00000359114.3:p.Ser1573=
ENST00000353414.8:c.4602G>A	ENSP00000302551.6:p.Ser1534=
ENST00000358392.6:c.4755G>A	ENSP00000351163.2:p.Ser1585=
ENST00000370096.7:c.4719G>A	ENSP00000359114.3:p.Ser1573=
ENST00000512756.5:c.4371G>A	ENSP00000426533.1:p.Ser1457=
ENST00000635193.1:c.4053G>A
NM_001190709.1:c.4602G>A	NP_001177638.1:p.Ser1534=
NM_001854.3:c.4719G>A	NP_001845.3:p.Ser1573=
NM_080629.2:c.4755G>A	NP_542196.2:p.Ser1585=
NM_080630.3:c.4371G>A	NP_542197.3:p.Ser1457=
XM_011540720.1:c.2952G>A	XP_011539022.1:p.Ser984=
XM_011540721.1:c.2307G>A	XP_011539023.1:p.Ser769=
NR_134980.1:n.5053G>A
XM_017000334.1:c.4872G>A	XP_016855823.1:p.Ser1624=
XM_017000335.1:c.4866G>A	XP_016855824.1:p.Ser1622=
XM_017000337.1:c.3270G>A	XP_016855826.1:p.Ser1090=
NM_001854.4:c.4719G>A MANE Select	NP_001845.3:p.Ser1573=
NM_080630.4:c.4371G>A	NP_542197.3:p.Ser1457=
NR_134980.2:n.5079G>A
NM_001190709.2:c.4602G>A	NP_001177638.1:p.Ser1534=
NM_080629.3:c.4755G>A	NP_542196.2:p.Ser1585=