Canonical Allele Identifier: CA10606516

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 289672
• ClinVar RCV Id: RCV000386903 ; RCV001138820 ; RCV003631112
• dbSNP Id: rs886044237
• gnomAD v4: 2-237361829-G-A
• MyVariant Identifiers: chr2:g.238270472G>A (hg19) ; chr2:g.237361829G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237361829G>A , CM000664.2:g.237361829G>A	GRCh38
NC_000002.11:g.238270472G>A , CM000664.1:g.238270472G>A	GRCh37
NC_000002.10:g.237935211G>A	NCBI36
NG_008676.1:g.57379C>T , LRG_473:g.57379C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5448C>T	ENSP00000315873.4:p.Asp1816=
ENST00000295550.9:c.6066C>T MANE Select	ENSP00000295550.4:p.Asp2022=
ENST00000295550.8:c.6066C>T	ENSP00000295550.4:p.Asp2022=
ENST00000347401.7:c.4245C>T	ENSP00000315609.4:p.Asp1415=
ENST00000353578.8:c.5448C>T	ENSP00000315873.4:p.Asp1816=
ENST00000409809.5:c.5448C>T	ENSP00000386844.1:p.Asp1816=
ENST00000472056.5:c.4245C>T	ENSP00000418285.1:p.Asp1415=
NM_004369.3:c.6066C>T , LRG_473t1:c.6066C>T	NP_004360.2:p.Asp2022=
NM_057166.4:c.4245C>T	NP_476507.3:p.Asp1415=
NM_057167.3:c.5448C>T	NP_476508.2:p.Asp1816=
XM_005246065.1:c.5466C>T	XP_005246122.1:p.Asp1822=
XM_005246066.1:c.4845C>T	XP_005246123.1:p.Asp1615=
XM_006712253.1:c.5565C>T	XP_006712316.1:p.Asp1855=
XM_011510574.1:c.6063C>T	XP_011508876.1:p.Asp2021=
XM_011510575.1:c.3660C>T	XP_011508877.1:p.Asp1220=
XM_017003304.1:c.3660C>T	XP_016858793.1:p.Asp1220=
XM_024452684.1:c.4845C>T	XP_024308452.1:p.Asp1615=
NM_004369.4:c.6066C>T MANE Select	NP_004360.2:p.Asp2022=
NM_057166.5:c.4245C>T	NP_476507.3:p.Asp1415=
NM_057167.4:c.5448C>T	NP_476508.2:p.Asp1816=