Canonical Allele Identifier: CA2188061

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 335112
• ClinVar RCV Id: RCV001078521
• dbSNP Id: rs374952003
• ExAC: 2:238258817 G / A
• gnomAD v2: 2-238258817-G-A
• gnomAD v3: 2-237350174-G-A
• gnomAD v4: 2-237350174-G-A
• MyVariant Identifiers: chr2:g.238258817G>A (hg19) ; chr2:g.237350174G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237350174G>A , CM000664.2:g.237350174G>A	GRCh38
NC_000002.11:g.238258817G>A , CM000664.1:g.238258817G>A	GRCh37
NC_000002.10:g.237923556G>A	NCBI36
NG_008676.1:g.69034C>T , LRG_473:g.69034C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000353578.9:c.6234C>T	ENSP00000315873.4:p.Ile2078=
ENST00000295550.9:c.6852C>T MANE Select	ENSP00000295550.4:p.Ile2284=
ENST00000295550.8:c.6852C>T	ENSP00000295550.4:p.Ile2284=
ENST00000347401.7:c.5031C>T	ENSP00000315609.4:p.Ile1677=
ENST00000353578.8:c.6234C>T	ENSP00000315873.4:p.Ile2078=
ENST00000409809.5:c.6234C>T	ENSP00000386844.1:p.Ile2078=
ENST00000472056.5:c.5031C>T	ENSP00000418285.1:p.Ile1677=
ENST00000491769.1:n.1106C>T
NM_004369.3:c.6852C>T , LRG_473t1:c.6852C>T	NP_004360.2:p.Ile2284=
NM_057166.4:c.5031C>T	NP_476507.3:p.Ile1677=
NM_057167.3:c.6234C>T	NP_476508.2:p.Ile2078=
XM_005246065.1:c.6252C>T	XP_005246122.1:p.Ile2084=
XM_005246066.1:c.5631C>T	XP_005246123.1:p.Ile1877=
XM_006712253.1:c.6351C>T	XP_006712316.1:p.Ile2117=
XM_011510574.1:c.6849C>T	XP_011508876.1:p.Ile2283=
XM_011510575.1:c.4446C>T	XP_011508877.1:p.Ile1482=
XM_017003304.1:c.4446C>T	XP_016858793.1:p.Ile1482=
XM_024452684.1:c.5631C>T	XP_024308452.1:p.Ile1877=
NM_004369.4:c.6852C>T MANE Select	NP_004360.2:p.Ile2284=
NM_057166.5:c.5031C>T	NP_476507.3:p.Ile1677=
NM_057167.4:c.6234C>T	NP_476508.2:p.Ile2078=