Canonical Allele Identifier: CA10604184

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 282448
• ClinVar RCV Id: RCV000326714 ; RCV001320936
• dbSNP Id: rs777465480
• gnomAD v2: 2-238305450-T-A
• gnomAD v4: 2-237396807-T-A
• MyVariant Identifiers: chr2:g.238305450T>A (hg19) ; chr2:g.237396807T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237396807T>A , CM000664.2:g.237396807T>A	GRCh38
NC_000002.11:g.238305450T>A , CM000664.1:g.238305450T>A	GRCh37
NC_000002.10:g.237970189T>A	NCBI36
NG_008676.1:g.22401A>T , LRG_473:g.22401A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.11A>T	ENSP00000315873.4:p.His4Leu
ENST00000682405.1:n.50-45A>T
ENST00000683155.1:n.231A>T
ENST00000295550.9:c.11A>T MANE Select	ENSP00000295550.4:p.His4Leu
ENST00000295550.8:c.11A>T	ENSP00000295550.4:p.His4Leu
ENST00000347401.7:c.11A>T	ENSP00000315609.4:p.His4Leu
ENST00000353578.8:c.11A>T	ENSP00000315873.4:p.His4Leu
ENST00000392003.6:c.11A>T	ENSP00000375860.2:p.His4Leu
ENST00000392004.7:c.11A>T	ENSP00000375861.3:p.His4Leu
ENST00000409809.5:c.11A>T	ENSP00000386844.1:p.His4Leu
ENST00000433762.1:c.11A>T	ENSP00000389539.1:p.His4Leu
ENST00000472056.5:c.11A>T	ENSP00000418285.1:p.His4Leu
NM_004369.3:c.11A>T , LRG_473t1:c.11A>T	NP_004360.2:p.His4Leu
NM_057164.4:c.11A>T	NP_476505.3:p.His4Leu
NM_057165.4:c.11A>T	NP_476506.3:p.His4Leu
NM_057166.4:c.11A>T	NP_476507.3:p.His4Leu
NM_057167.3:c.11A>T	NP_476508.2:p.His4Leu
XM_005246065.1:c.11A>T	XP_005246122.1:p.His4Leu
XM_005246066.1:c.11A>T	XP_005246123.1:p.His4Leu
XM_006712253.1:c.11A>T	XP_006712316.1:p.His4Leu
XM_011510574.1:c.11A>T	XP_011508876.1:p.His4Leu
XM_011510575.1:c.11A>T	XP_011508877.1:p.His4Leu
XM_017003304.1:c.11A>T	XP_016858793.1:p.His4Leu
XM_024452684.1:c.11A>T	XP_024308452.1:p.His4Leu
NM_004369.4:c.11A>T MANE Select	NP_004360.2:p.His4Leu
NM_057164.5:c.11A>T	NP_476505.3:p.His4Leu
NM_057165.5:c.11A>T	NP_476506.3:p.His4Leu
NM_057166.5:c.11A>T	NP_476507.3:p.His4Leu
NM_057167.4:c.11A>T	NP_476508.2:p.His4Leu