Canonical Allele Identifier: CA431701826

Gene: COL6A3

Linked Data

• dbSNP Id: rs1559194418
• gnomAD v2: 2-238244971-G-A
• gnomAD v4: 2-237336328-G-A
• MyVariant Identifiers: chr2:g.238244971G>A (hg19) ; chr2:g.238244971_238244986delinsAGCCACAGGCTTGGCA (hg19) ; chr2:g.237336328_237336343delinsAGCCACAGGCTTGGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336328G>A , CM000664.2:g.237336328G>A	GRCh38
NC_000002.11:g.238244971G>A , CM000664.1:g.238244971G>A	GRCh37
NC_000002.10:g.237909710G>A	NCBI36
NG_008676.1:g.82880C>T , LRG_473:g.82880C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1417C>T
ENST00000353578.9:c.8154C>T	ENSP00000315873.4:p.Ala2718=
ENST00000682957.1:c.899C>T
ENST00000684508.1:n.1039C>T
ENST00000295550.9:c.8772C>T MANE Select	ENSP00000295550.4:p.Ala2924=
ENST00000295550.8:c.8772C>T	ENSP00000295550.4:p.Ala2924=
ENST00000347401.7:c.6948C>T	ENSP00000315609.4:p.Ala2316=
ENST00000353578.8:c.8154C>T	ENSP00000315873.4:p.Ala2718=
ENST00000409809.5:c.8154C>T	ENSP00000386844.1:p.Ala2718=
ENST00000472056.5:c.6951C>T	ENSP00000418285.1:p.Ala2317=
ENST00000491769.1:n.5214C>T
NM_004369.3:c.8772C>T , LRG_473t1:c.8772C>T	NP_004360.2:p.Ala2924=
NM_057166.4:c.6951C>T	NP_476507.3:p.Ala2317=
NM_057167.3:c.8154C>T	NP_476508.2:p.Ala2718=
XM_005246065.1:c.8172C>T	XP_005246122.1:p.Ala2724=
XM_005246066.1:c.7551C>T	XP_005246123.1:p.Ala2517=
XM_006712253.1:c.8271C>T	XP_006712316.1:p.Ala2757=
XM_011510574.1:c.8769C>T	XP_011508876.1:p.Ala2923=
XM_011510575.1:c.6366C>T	XP_011508877.1:p.Ala2122=
XM_017003304.1:c.6366C>T	XP_016858793.1:p.Ala2122=
XM_024452684.1:c.7551C>T	XP_024308452.1:p.Ala2517=
NM_004369.4:c.8772C>T MANE Select	NP_004360.2:p.Ala2924=
NM_057166.5:c.6951C>T	NP_476507.3:p.Ala2317=
NM_057167.4:c.8154C>T	NP_476508.2:p.Ala2718=