Canonical Allele Identifier: CA431676541

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237350168-G-A
• MyVariant Identifiers: chr2:g.238258811G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237350168G>A , CM000664.2:g.237350168G>A	GRCh38
NC_000002.11:g.238258811G>A , CM000664.1:g.238258811G>A	GRCh37
NC_000002.10:g.237923550G>A	NCBI36
NG_008676.1:g.69040C>T , LRG_473:g.69040C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000353578.9:c.6240C>T	ENSP00000315873.4:p.Asn2080=
ENST00000295550.9:c.6858C>T MANE Select	ENSP00000295550.4:p.Asn2286=
ENST00000295550.8:c.6858C>T	ENSP00000295550.4:p.Asn2286=
ENST00000347401.7:c.5037C>T	ENSP00000315609.4:p.Asn1679=
ENST00000353578.8:c.6240C>T	ENSP00000315873.4:p.Asn2080=
ENST00000409809.5:c.6240C>T	ENSP00000386844.1:p.Asn2080=
ENST00000472056.5:c.5037C>T	ENSP00000418285.1:p.Asn1679=
ENST00000491769.1:n.1112C>T
NM_004369.3:c.6858C>T , LRG_473t1:c.6858C>T	NP_004360.2:p.Asn2286=
NM_057166.4:c.5037C>T	NP_476507.3:p.Asn1679=
NM_057167.3:c.6240C>T	NP_476508.2:p.Asn2080=
XM_005246065.1:c.6258C>T	XP_005246122.1:p.Asn2086=
XM_005246066.1:c.5637C>T	XP_005246123.1:p.Asn1879=
XM_006712253.1:c.6357C>T	XP_006712316.1:p.Asn2119=
XM_011510574.1:c.6855C>T	XP_011508876.1:p.Asn2285=
XM_011510575.1:c.4452C>T	XP_011508877.1:p.Asn1484=
XM_017003304.1:c.4452C>T	XP_016858793.1:p.Asn1484=
XM_024452684.1:c.5637C>T	XP_024308452.1:p.Asn1879=
NM_004369.4:c.6858C>T MANE Select	NP_004360.2:p.Asn2286=
NM_057166.5:c.5037C>T	NP_476507.3:p.Asn1679=
NM_057167.4:c.6240C>T	NP_476508.2:p.Asn2080=