Canonical Allele Identifier: CA351191069

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237368686C>A , CM000664.2:g.237368686C>A	GRCh38
NC_000002.11:g.238277329C>A , CM000664.1:g.238277329C>A	GRCh37
NC_000002.10:g.237942068C>A	NCBI36
NG_008676.1:g.50522G>T , LRG_473:g.50522G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.4777G>T MANE Select	NP_004360.2:p.Val1593Phe
ENST00000295550.9:c.4777G>T MANE Select	ENSP00000295550.4:p.Val1593Phe
NM_004369.3:c.4777G>T , LRG_473t1:c.4777G>T	NP_004360.2:p.Val1593Phe
NM_057166.4:c.2956G>T	NP_476507.3:p.Val986Phe
NM_057166.5:c.2956G>T	NP_476507.3:p.Val986Phe
NM_057167.3:c.4159G>T	NP_476508.2:p.Val1387Phe
NM_057167.4:c.4159G>T	NP_476508.2:p.Val1387Phe
ENST00000295550.8:c.4777G>T	ENSP00000295550.4:p.Val1593Phe
ENST00000347401.7:c.2956G>T	ENSP00000315609.4:p.Val986Phe
ENST00000353578.8:c.4159G>T	ENSP00000315873.4:p.Val1387Phe
ENST00000353578.9:c.4159G>T	ENSP00000315873.4:p.Val1387Phe
ENST00000409809.5:c.4159G>T	ENSP00000386844.1:p.Val1387Phe
ENST00000472056.5:c.2956G>T	ENSP00000418285.1:p.Val986Phe
ENST00000684597.1:c.117-10G>T
XM_005246065.1:c.4177G>T	XP_005246122.1:p.Val1393Phe
XM_005246066.1:c.3556G>T	XP_005246123.1:p.Val1186Phe
XM_006712253.1:c.4286-10G>T	XP_006712316.1:n.4286-10G>T
XM_011510574.1:c.4774G>T	XP_011508876.1:p.Val1592Phe
XM_011510575.1:c.2371G>T	XP_011508877.1:p.Val791Phe
XM_017003304.1:c.2371G>T	XP_016858793.1:p.Val791Phe
XM_024452684.1:c.3556G>T	XP_024308452.1:p.Val1186Phe