Canonical Allele Identifier: CA351194659

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238249146T>G (hg19) ; chr2:g.237340503T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340503T>G , CM000664.2:g.237340503T>G	GRCh38
NC_000002.11:g.238249146T>G , CM000664.1:g.238249146T>G	GRCh37
NC_000002.10:g.237913885T>G	NCBI36
NG_008676.1:g.78705A>C , LRG_473:g.78705A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1058A>C
ENST00000353578.9:c.7795A>C	ENSP00000315873.4:p.Asn2599His
ENST00000682957.1:c.416A>C
ENST00000684508.1:n.680A>C
ENST00000295550.9:c.8413A>C MANE Select	ENSP00000295550.4:p.Asn2805His
ENST00000295550.8:c.8413A>C	ENSP00000295550.4:p.Asn2805His
ENST00000347401.7:c.6589A>C	ENSP00000315609.4:p.Asn2197His
ENST00000353578.8:c.7795A>C	ENSP00000315873.4:p.Asn2599His
ENST00000409809.5:c.7795A>C	ENSP00000386844.1:p.Asn2599His
ENST00000468792.1:n.100A>C
ENST00000472056.5:c.6592A>C	ENSP00000418285.1:p.Asn2198His
ENST00000491769.1:n.4855A>C
NM_004369.3:c.8413A>C , LRG_473t1:c.8413A>C	NP_004360.2:p.Asn2805His
NM_057166.4:c.6592A>C	NP_476507.3:p.Asn2198His
NM_057167.3:c.7795A>C	NP_476508.2:p.Asn2599His
XM_005246065.1:c.7813A>C	XP_005246122.1:p.Asn2605His
XM_005246066.1:c.7192A>C	XP_005246123.1:p.Asn2398His
XM_006712253.1:c.7912A>C	XP_006712316.1:p.Asn2638His
XM_011510574.1:c.8410A>C	XP_011508876.1:p.Asn2804His
XM_011510575.1:c.6007A>C	XP_011508877.1:p.Asn2003His
XM_017003304.1:c.6007A>C	XP_016858793.1:p.Asn2003His
XM_024452684.1:c.7192A>C	XP_024308452.1:p.Asn2398His
NM_004369.4:c.8413A>C MANE Select	NP_004360.2:p.Asn2805His
NM_057166.5:c.6592A>C	NP_476507.3:p.Asn2198His
NM_057167.4:c.7795A>C	NP_476508.2:p.Asn2599His