Canonical Allele Identifier: CA351194807

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238249168T>G (hg19) ; chr2:g.237340525T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340525T>G , CM000664.2:g.237340525T>G	GRCh38
NC_000002.11:g.238249168T>G , CM000664.1:g.238249168T>G	GRCh37
NC_000002.10:g.237913907T>G	NCBI36
NG_008676.1:g.78683A>C , LRG_473:g.78683A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1036A>C
ENST00000353578.9:c.7773A>C	ENSP00000315873.4:p.Leu2591Phe
ENST00000682957.1:c.394A>C
ENST00000684508.1:n.658A>C
ENST00000295550.9:c.8391A>C MANE Select	ENSP00000295550.4:p.Leu2797Phe
ENST00000295550.8:c.8391A>C	ENSP00000295550.4:p.Leu2797Phe
ENST00000347401.7:c.6567A>C	ENSP00000315609.4:p.Leu2189Phe
ENST00000353578.8:c.7773A>C	ENSP00000315873.4:p.Leu2591Phe
ENST00000409809.5:c.7773A>C	ENSP00000386844.1:p.Leu2591Phe
ENST00000468792.1:n.78A>C
ENST00000472056.5:c.6570A>C	ENSP00000418285.1:p.Leu2190Phe
ENST00000491769.1:n.4833A>C
NM_004369.3:c.8391A>C , LRG_473t1:c.8391A>C	NP_004360.2:p.Leu2797Phe
NM_057166.4:c.6570A>C	NP_476507.3:p.Leu2190Phe
NM_057167.3:c.7773A>C	NP_476508.2:p.Leu2591Phe
XM_005246065.1:c.7791A>C	XP_005246122.1:p.Leu2597Phe
XM_005246066.1:c.7170A>C	XP_005246123.1:p.Leu2390Phe
XM_006712253.1:c.7890A>C	XP_006712316.1:p.Leu2630Phe
XM_011510574.1:c.8388A>C	XP_011508876.1:p.Leu2796Phe
XM_011510575.1:c.5985A>C	XP_011508877.1:p.Leu1995Phe
XM_017003304.1:c.5985A>C	XP_016858793.1:p.Leu1995Phe
XM_024452684.1:c.7170A>C	XP_024308452.1:p.Leu2390Phe
NM_004369.4:c.8391A>C MANE Select	NP_004360.2:p.Leu2797Phe
NM_057166.5:c.6570A>C	NP_476507.3:p.Leu2190Phe
NM_057167.4:c.7773A>C	NP_476508.2:p.Leu2591Phe