Canonical Allele Identifier: CA351195337

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238249255G>T (hg19) ; chr2:g.237340612G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340612G>T , CM000664.2:g.237340612G>T	GRCh38
NC_000002.11:g.238249255G>T , CM000664.1:g.238249255G>T	GRCh37
NC_000002.10:g.237913994G>T	NCBI36
NG_008676.1:g.78596C>A , LRG_473:g.78596C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.949C>A
ENST00000353578.9:c.7686C>A	ENSP00000315873.4:p.Phe2562Leu
ENST00000682957.1:c.307C>A
ENST00000684508.1:n.571C>A
ENST00000295550.9:c.8304C>A MANE Select	ENSP00000295550.4:p.Phe2768Leu
ENST00000295550.8:c.8304C>A	ENSP00000295550.4:p.Phe2768Leu
ENST00000347401.7:c.6480C>A	ENSP00000315609.4:p.Phe2160Leu
ENST00000353578.8:c.7686C>A	ENSP00000315873.4:p.Phe2562Leu
ENST00000409809.5:c.7686C>A	ENSP00000386844.1:p.Phe2562Leu
ENST00000472056.5:c.6483C>A	ENSP00000418285.1:p.Phe2161Leu
ENST00000491769.1:n.4746C>A
NM_004369.3:c.8304C>A , LRG_473t1:c.8304C>A	NP_004360.2:p.Phe2768Leu
NM_057166.4:c.6483C>A	NP_476507.3:p.Phe2161Leu
NM_057167.3:c.7686C>A	NP_476508.2:p.Phe2562Leu
XM_005246065.1:c.7704C>A	XP_005246122.1:p.Phe2568Leu
XM_005246066.1:c.7083C>A	XP_005246123.1:p.Phe2361Leu
XM_006712253.1:c.7803C>A	XP_006712316.1:p.Phe2601Leu
XM_011510574.1:c.8301C>A	XP_011508876.1:p.Phe2767Leu
XM_011510575.1:c.5898C>A	XP_011508877.1:p.Phe1966Leu
XM_017003304.1:c.5898C>A	XP_016858793.1:p.Phe1966Leu
XM_024452684.1:c.7083C>A	XP_024308452.1:p.Phe2361Leu
NM_004369.4:c.8304C>A MANE Select	NP_004360.2:p.Phe2768Leu
NM_057166.5:c.6483C>A	NP_476507.3:p.Phe2161Leu
NM_057167.4:c.7686C>A	NP_476508.2:p.Phe2562Leu