Canonical Allele Identifier: CA351197030

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340941G>A , CM000664.2:g.237340941G>A	GRCh38
NC_000002.11:g.238249584G>A , CM000664.1:g.238249584G>A	GRCh37
NC_000002.10:g.237914323G>A	NCBI36
NG_008676.1:g.78267C>T , LRG_473:g.78267C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.7975C>T MANE Select	NP_004360.2:p.Gln2659Ter
ENST00000295550.9:c.7975C>T MANE Select	ENSP00000295550.4:p.Gln2659Ter
NM_004369.3:c.7975C>T , LRG_473t1:c.7975C>T	NP_004360.2:p.Gln2659Ter
NM_057166.4:c.6154C>T	NP_476507.3:p.Gln2052Ter
NM_057166.5:c.6154C>T	NP_476507.3:p.Gln2052Ter
NM_057167.3:c.7357C>T	NP_476508.2:p.Gln2453Ter
NM_057167.4:c.7357C>T	NP_476508.2:p.Gln2453Ter
ENST00000295550.8:c.7975C>T	ENSP00000295550.4:p.Gln2659Ter
ENST00000347401.7:c.6151C>T	ENSP00000315609.4:p.Gln2051Ter
ENST00000347401.8:c.620C>T
ENST00000353578.8:c.7357C>T	ENSP00000315873.4:p.Gln2453Ter
ENST00000353578.9:c.7357C>T	ENSP00000315873.4:p.Gln2453Ter
ENST00000409809.5:c.7357C>T	ENSP00000386844.1:p.Gln2453Ter
ENST00000472056.5:c.6154C>T	ENSP00000418285.1:p.Gln2052Ter
ENST00000491769.1:n.4417C>T
ENST00000684508.1:n.242C>T
XM_005246065.1:c.7375C>T	XP_005246122.1:p.Gln2459Ter
XM_005246066.1:c.6754C>T	XP_005246123.1:p.Gln2252Ter
XM_006712253.1:c.7474C>T	XP_006712316.1:p.Gln2492Ter
XM_011510574.1:c.7972C>T	XP_011508876.1:p.Gln2658Ter
XM_011510575.1:c.5569C>T	XP_011508877.1:p.Gln1857Ter
XM_017003304.1:c.5569C>T	XP_016858793.1:p.Gln1857Ter
XM_024452684.1:c.6754C>T	XP_024308452.1:p.Gln2252Ter