Canonical Allele Identifier: CA233832

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 166942
• ClinVar RCV Id: RCV000249315 ; RCV000302602 ; RCV000415904 ; RCV001079654
• dbSNP Id: rs146355600
• ExAC: 2:238274560 G / A
• gnomAD v2: 2-238274560-G-A
• gnomAD v3: 2-237365917-G-A
• gnomAD v4: 2-237365917-G-A
• MyVariant Identifiers: chr2:g.238274560G>A (hg19) ; chr2:g.237365917G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237365917G>A , CM000664.2:g.237365917G>A	GRCh38
NC_000002.11:g.238274560G>A , CM000664.1:g.238274560G>A	GRCh37
NC_000002.10:g.237939299G>A	NCBI36
NG_008676.1:g.53291C>T , LRG_473:g.53291C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5001C>T	ENSP00000315873.4:p.His1667=
ENST00000295550.9:c.5619C>T MANE Select	ENSP00000295550.4:p.His1873=
ENST00000295550.8:c.5619C>T	ENSP00000295550.4:p.His1873=
ENST00000347401.7:c.3798C>T	ENSP00000315609.4:p.His1266=
ENST00000353578.8:c.5001C>T	ENSP00000315873.4:p.His1667=
ENST00000409809.5:c.5001C>T	ENSP00000386844.1:p.His1667=
ENST00000472056.5:c.3798C>T	ENSP00000418285.1:p.His1266=
NM_004369.3:c.5619C>T , LRG_473t1:c.5619C>T	NP_004360.2:p.His1873=
NM_057166.4:c.3798C>T	NP_476507.3:p.His1266=
NM_057167.3:c.5001C>T	NP_476508.2:p.His1667=
XM_005246065.1:c.5019C>T	XP_005246122.1:p.His1673=
XM_005246066.1:c.4398C>T	XP_005246123.1:p.His1466=
XM_006712253.1:c.5118C>T	XP_006712316.1:p.His1706=
XM_011510574.1:c.5616C>T	XP_011508876.1:p.His1872=
XM_011510575.1:c.3213C>T	XP_011508877.1:p.His1071=
XM_017003304.1:c.3213C>T	XP_016858793.1:p.His1071=
XM_024452684.1:c.4398C>T	XP_024308452.1:p.His1466=
NM_004369.4:c.5619C>T MANE Select	NP_004360.2:p.His1873=
NM_057166.5:c.3798C>T	NP_476507.3:p.His1266=
NM_057167.4:c.5001C>T	NP_476508.2:p.His1667=