Canonical Allele Identifier: CA351188814

Gene: COL6A3

Linked Data

• dbSNP Id: rs1204575404
• gnomAD v2: 2-238243435-G-T
• gnomAD v4: 2-237334792-G-T
• MyVariant Identifiers: chr2:g.238243435G>T (hg19) ; chr2:g.237334792G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334792G>T , CM000664.2:g.237334792G>T	GRCh38
NC_000002.11:g.238243435G>T , CM000664.1:g.238243435G>T	GRCh37
NC_000002.10:g.237908174G>T	NCBI36
NG_008676.1:g.84416C>A , LRG_473:g.84416C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.1611-1244C>A
ENST00000353578.9:c.8445C>A	ENSP00000315873.4:p.Asp2815Glu
ENST00000682957.1:c.1190C>A
ENST00000295550.9:c.9063C>A MANE Select	ENSP00000295550.4:p.Asp3021Glu
ENST00000295550.8:c.9063C>A	ENSP00000295550.4:p.Asp3021Glu
ENST00000347401.7:c.7239C>A	ENSP00000315609.4:p.Asp2413Glu
ENST00000353578.8:c.8445C>A	ENSP00000315873.4:p.Asp2815Glu
ENST00000409809.5:c.8445C>A	ENSP00000386844.1:p.Asp2815Glu
ENST00000472056.5:c.7242C>A	ENSP00000418285.1:p.Asp2414Glu
ENST00000491769.1:n.5505C>A
NM_004369.3:c.9063C>A , LRG_473t1:c.9063C>A	NP_004360.2:p.Asp3021Glu
NM_057166.4:c.7242C>A	NP_476507.3:p.Asp2414Glu
NM_057167.3:c.8445C>A	NP_476508.2:p.Asp2815Glu
XM_005246065.1:c.8463C>A	XP_005246122.1:p.Asp2821Glu
XM_005246066.1:c.7842C>A	XP_005246123.1:p.Asp2614Glu
XM_006712253.1:c.8562C>A	XP_006712316.1:p.Asp2854Glu
XM_011510574.1:c.9060C>A	XP_011508876.1:p.Asp3020Glu
XM_011510575.1:c.6657C>A	XP_011508877.1:p.Asp2219Glu
XM_017003304.1:c.6657C>A	XP_016858793.1:p.Asp2219Glu
XM_024452684.1:c.7842C>A	XP_024308452.1:p.Asp2614Glu
NM_004369.4:c.9063C>A MANE Select	NP_004360.2:p.Asp3021Glu
NM_057166.5:c.7242C>A	NP_476507.3:p.Asp2414Glu
NM_057167.4:c.8445C>A	NP_476508.2:p.Asp2815Glu