Canonical Allele Identifier: CA351195039

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238249201G>C (hg19) ; chr2:g.237340558G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340558G>C , CM000664.2:g.237340558G>C	GRCh38
NC_000002.11:g.238249201G>C , CM000664.1:g.238249201G>C	GRCh37
NC_000002.10:g.237913940G>C	NCBI36
NG_008676.1:g.78650C>G , LRG_473:g.78650C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1003C>G
ENST00000353578.9:c.7740C>G	ENSP00000315873.4:p.Phe2580Leu
ENST00000682957.1:c.361C>G
ENST00000684508.1:n.625C>G
ENST00000295550.9:c.8358C>G MANE Select	ENSP00000295550.4:p.Phe2786Leu
ENST00000295550.8:c.8358C>G	ENSP00000295550.4:p.Phe2786Leu
ENST00000347401.7:c.6534C>G	ENSP00000315609.4:p.Phe2178Leu
ENST00000353578.8:c.7740C>G	ENSP00000315873.4:p.Phe2580Leu
ENST00000409809.5:c.7740C>G	ENSP00000386844.1:p.Phe2580Leu
ENST00000468792.1:n.45C>G
ENST00000472056.5:c.6537C>G	ENSP00000418285.1:p.Phe2179Leu
ENST00000491769.1:n.4800C>G
NM_004369.3:c.8358C>G , LRG_473t1:c.8358C>G	NP_004360.2:p.Phe2786Leu
NM_057166.4:c.6537C>G	NP_476507.3:p.Phe2179Leu
NM_057167.3:c.7740C>G	NP_476508.2:p.Phe2580Leu
XM_005246065.1:c.7758C>G	XP_005246122.1:p.Phe2586Leu
XM_005246066.1:c.7137C>G	XP_005246123.1:p.Phe2379Leu
XM_006712253.1:c.7857C>G	XP_006712316.1:p.Phe2619Leu
XM_011510574.1:c.8355C>G	XP_011508876.1:p.Phe2785Leu
XM_011510575.1:c.5952C>G	XP_011508877.1:p.Phe1984Leu
XM_017003304.1:c.5952C>G	XP_016858793.1:p.Phe1984Leu
XM_024452684.1:c.7137C>G	XP_024308452.1:p.Phe2379Leu
NM_004369.4:c.8358C>G MANE Select	NP_004360.2:p.Phe2786Leu
NM_057166.5:c.6537C>G	NP_476507.3:p.Phe2179Leu
NM_057167.4:c.7740C>G	NP_476508.2:p.Phe2580Leu