Canonical Allele Identifier: CA351188170

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238243319C>A (hg19) ; chr2:g.237334676C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334676C>A , CM000664.2:g.237334676C>A	GRCh38
NC_000002.11:g.238243319C>A , CM000664.1:g.238243319C>A	GRCh37
NC_000002.10:g.237908058C>A	NCBI36
NG_008676.1:g.84532G>T , LRG_473:g.84532G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1611-1128G>T
ENST00000353578.9:c.8561G>T	ENSP00000315873.4:p.Cys2854Phe
ENST00000682957.1:c.1306G>T
ENST00000683348.1:c.47G>T	ENSP00000508058.1:p.Cys16Phe
ENST00000295550.9:c.9179G>T MANE Select	ENSP00000295550.4:p.Cys3060Phe
ENST00000295550.8:c.9179G>T	ENSP00000295550.4:p.Cys3060Phe
ENST00000347401.7:c.7355G>T	ENSP00000315609.4:p.Cys2452Phe
ENST00000353578.8:c.8561G>T	ENSP00000315873.4:p.Cys2854Phe
ENST00000409809.5:c.8561G>T	ENSP00000386844.1:p.Cys2854Phe
ENST00000472056.5:c.7358G>T	ENSP00000418285.1:p.Cys2453Phe
ENST00000491769.1:n.5621G>T
ENST00000493608.1:n.111G>T
NM_004369.3:c.9179G>T , LRG_473t1:c.9179G>T	NP_004360.2:p.Cys3060Phe
NM_057166.4:c.7358G>T	NP_476507.3:p.Cys2453Phe
NM_057167.3:c.8561G>T	NP_476508.2:p.Cys2854Phe
XM_005246065.1:c.8579G>T	XP_005246122.1:p.Cys2860Phe
XM_005246066.1:c.7958G>T	XP_005246123.1:p.Cys2653Phe
XM_006712253.1:c.8678G>T	XP_006712316.1:p.Cys2893Phe
XM_011510574.1:c.9176G>T	XP_011508876.1:p.Cys3059Phe
XM_011510575.1:c.6773G>T	XP_011508877.1:p.Cys2258Phe
XM_017003304.1:c.6773G>T	XP_016858793.1:p.Cys2258Phe
XM_024452684.1:c.7958G>T	XP_024308452.1:p.Cys2653Phe
NM_004369.4:c.9179G>T MANE Select	NP_004360.2:p.Cys3060Phe
NM_057166.5:c.7358G>T	NP_476507.3:p.Cys2453Phe
NM_057167.4:c.8561G>T	NP_476508.2:p.Cys2854Phe