Canonical Allele Identifier: CA351202450

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238253145A>C (hg19) ; chr2:g.237344502A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344502A>C , CM000664.2:g.237344502A>C	GRCh38
NC_000002.11:g.238253145A>C , CM000664.1:g.238253145A>C	GRCh37
NC_000002.10:g.237917884A>C	NCBI36
NG_008676.1:g.74706T>G , LRG_473:g.74706T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.161T>G
ENST00000353578.9:c.6898T>G	ENSP00000315873.4:p.Phe2300Val
ENST00000295550.9:c.7516T>G MANE Select	ENSP00000295550.4:p.Phe2506Val
ENST00000295550.8:c.7516T>G	ENSP00000295550.4:p.Phe2506Val
ENST00000347401.7:c.5692T>G	ENSP00000315609.4:p.Phe1898Val
ENST00000353578.8:c.6898T>G	ENSP00000315873.4:p.Phe2300Val
ENST00000409809.5:c.6898T>G	ENSP00000386844.1:p.Phe2300Val
ENST00000472056.5:c.5695T>G	ENSP00000418285.1:p.Phe1899Val
ENST00000491769.1:n.1770T>G
NM_004369.3:c.7516T>G , LRG_473t1:c.7516T>G	NP_004360.2:p.Phe2506Val
NM_057166.4:c.5695T>G	NP_476507.3:p.Phe1899Val
NM_057167.3:c.6898T>G	NP_476508.2:p.Phe2300Val
XM_005246065.1:c.6916T>G	XP_005246122.1:p.Phe2306Val
XM_005246066.1:c.6295T>G	XP_005246123.1:p.Phe2099Val
XM_006712253.1:c.7015T>G	XP_006712316.1:p.Phe2339Val
XM_011510574.1:c.7513T>G	XP_011508876.1:p.Phe2505Val
XM_011510575.1:c.5110T>G	XP_011508877.1:p.Phe1704Val
XM_017003304.1:c.5110T>G	XP_016858793.1:p.Phe1704Val
XM_024452684.1:c.6295T>G	XP_024308452.1:p.Phe2099Val
NM_004369.4:c.7516T>G MANE Select	NP_004360.2:p.Phe2506Val
NM_057166.5:c.5695T>G	NP_476507.3:p.Phe1899Val
NM_057167.4:c.6898T>G	NP_476508.2:p.Phe2300Val