Canonical Allele Identifier: CA431699146

Gene: COL6A3

Linked Data

• dbSNP Id: rs1700446881
• gnomAD v3: 2-237334789-G-A
• gnomAD v4: 2-237334789-G-A
• MyVariant Identifiers: chr2:g.238243432G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334789G>A , CM000664.2:g.237334789G>A	GRCh38
NC_000002.11:g.238243432G>A , CM000664.1:g.238243432G>A	GRCh37
NC_000002.10:g.237908171G>A	NCBI36
NG_008676.1:g.84419C>T , LRG_473:g.84419C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.1611-1241C>T
ENST00000353578.9:c.8448C>T	ENSP00000315873.4:p.Leu2816=
ENST00000682957.1:c.1193C>T
ENST00000295550.9:c.9066C>T MANE Select	ENSP00000295550.4:p.Leu3022=
ENST00000295550.8:c.9066C>T	ENSP00000295550.4:p.Leu3022=
ENST00000347401.7:c.7242C>T	ENSP00000315609.4:p.Leu2414=
ENST00000353578.8:c.8448C>T	ENSP00000315873.4:p.Leu2816=
ENST00000409809.5:c.8448C>T	ENSP00000386844.1:p.Leu2816=
ENST00000472056.5:c.7245C>T	ENSP00000418285.1:p.Leu2415=
ENST00000491769.1:n.5508C>T
NM_004369.3:c.9066C>T , LRG_473t1:c.9066C>T	NP_004360.2:p.Leu3022=
NM_057166.4:c.7245C>T	NP_476507.3:p.Leu2415=
NM_057167.3:c.8448C>T	NP_476508.2:p.Leu2816=
XM_005246065.1:c.8466C>T	XP_005246122.1:p.Leu2822=
XM_005246066.1:c.7845C>T	XP_005246123.1:p.Leu2615=
XM_006712253.1:c.8565C>T	XP_006712316.1:p.Leu2855=
XM_011510574.1:c.9063C>T	XP_011508876.1:p.Leu3021=
XM_011510575.1:c.6660C>T	XP_011508877.1:p.Leu2220=
XM_017003304.1:c.6660C>T	XP_016858793.1:p.Leu2220=
XM_024452684.1:c.7845C>T	XP_024308452.1:p.Leu2615=
NM_004369.4:c.9066C>T MANE Select	NP_004360.2:p.Leu3022=
NM_057166.5:c.7245C>T	NP_476507.3:p.Leu2415=
NM_057167.4:c.8448C>T	NP_476508.2:p.Leu2816=