Canonical Allele Identifier: CA351201448

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238252996C>G (hg19) ; chr2:g.237344353C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344353C>G , CM000664.2:g.237344353C>G	GRCh38
NC_000002.11:g.238252996C>G , CM000664.1:g.238252996C>G	GRCh37
NC_000002.10:g.237917735C>G	NCBI36
NG_008676.1:g.74855G>C , LRG_473:g.74855G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.310G>C
ENST00000353578.9:c.7047G>C	ENSP00000315873.4:p.Leu2349Phe
ENST00000295550.9:c.7665G>C MANE Select	ENSP00000295550.4:p.Leu2555Phe
ENST00000295550.8:c.7665G>C	ENSP00000295550.4:p.Leu2555Phe
ENST00000347401.7:c.5841G>C	ENSP00000315609.4:p.Leu1947Phe
ENST00000353578.8:c.7047G>C	ENSP00000315873.4:p.Leu2349Phe
ENST00000409809.5:c.7047G>C	ENSP00000386844.1:p.Leu2349Phe
ENST00000472056.5:c.5844G>C	ENSP00000418285.1:p.Leu1948Phe
ENST00000491769.1:n.1919G>C
NM_004369.3:c.7665G>C , LRG_473t1:c.7665G>C	NP_004360.2:p.Leu2555Phe
NM_057166.4:c.5844G>C	NP_476507.3:p.Leu1948Phe
NM_057167.3:c.7047G>C	NP_476508.2:p.Leu2349Phe
XM_005246065.1:c.7065G>C	XP_005246122.1:p.Leu2355Phe
XM_005246066.1:c.6444G>C	XP_005246123.1:p.Leu2148Phe
XM_006712253.1:c.7164G>C	XP_006712316.1:p.Leu2388Phe
XM_011510574.1:c.7662G>C	XP_011508876.1:p.Leu2554Phe
XM_011510575.1:c.5259G>C	XP_011508877.1:p.Leu1753Phe
XM_017003304.1:c.5259G>C	XP_016858793.1:p.Leu1753Phe
XM_024452684.1:c.6444G>C	XP_024308452.1:p.Leu2148Phe
NM_004369.4:c.7665G>C MANE Select	NP_004360.2:p.Leu2555Phe
NM_057166.5:c.5844G>C	NP_476507.3:p.Leu1948Phe
NM_057167.4:c.7047G>C	NP_476508.2:p.Leu2349Phe