Canonical Allele Identifier: CA351190914

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237336150-T-C
• MyVariant Identifiers: chr2:g.238244793T>C (hg19) ; chr2:g.237336150T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336150T>C , CM000664.2:g.237336150T>C	GRCh38
NC_000002.11:g.238244793T>C , CM000664.1:g.238244793T>C	GRCh37
NC_000002.10:g.237909532T>C	NCBI36
NG_008676.1:g.83058A>G , LRG_473:g.83058A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1595A>G
ENST00000353578.9:c.8332A>G	ENSP00000315873.4:p.Thr2778Ala
ENST00000682957.1:c.1077A>G
ENST00000684508.1:n.1217A>G
ENST00000295550.9:c.8950A>G MANE Select	ENSP00000295550.4:p.Thr2984Ala
ENST00000295550.8:c.8950A>G	ENSP00000295550.4:p.Thr2984Ala
ENST00000347401.7:c.7126A>G	ENSP00000315609.4:p.Thr2376Ala
ENST00000353578.8:c.8332A>G	ENSP00000315873.4:p.Thr2778Ala
ENST00000409809.5:c.8332A>G	ENSP00000386844.1:p.Thr2778Ala
ENST00000472056.5:c.7129A>G	ENSP00000418285.1:p.Thr2377Ala
ENST00000491769.1:n.5392A>G
NM_004369.3:c.8950A>G , LRG_473t1:c.8950A>G	NP_004360.2:p.Thr2984Ala
NM_057166.4:c.7129A>G	NP_476507.3:p.Thr2377Ala
NM_057167.3:c.8332A>G	NP_476508.2:p.Thr2778Ala
XM_005246065.1:c.8350A>G	XP_005246122.1:p.Thr2784Ala
XM_005246066.1:c.7729A>G	XP_005246123.1:p.Thr2577Ala
XM_006712253.1:c.8449A>G	XP_006712316.1:p.Thr2817Ala
XM_011510574.1:c.8947A>G	XP_011508876.1:p.Thr2983Ala
XM_011510575.1:c.6544A>G	XP_011508877.1:p.Thr2182Ala
XM_017003304.1:c.6544A>G	XP_016858793.1:p.Thr2182Ala
XM_024452684.1:c.7729A>G	XP_024308452.1:p.Thr2577Ala
NM_004369.4:c.8950A>G MANE Select	NP_004360.2:p.Thr2984Ala
NM_057166.5:c.7129A>G	NP_476507.3:p.Thr2377Ala
NM_057167.4:c.8332A>G	NP_476508.2:p.Thr2778Ala