Canonical Allele Identifier: CA67830636

Gene: COL6A3

Linked Data

• dbSNP Id: rs957706380
• gnomAD v3: 2-237336380-G-A
• gnomAD v4: 2-237336380-G-A
• MyVariant Identifiers: chr2:g.238245023G>A (hg19) ; chr2:g.237336380G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336380G>A , CM000664.2:g.237336380G>A	GRCh38
NC_000002.11:g.238245023G>A , CM000664.1:g.238245023G>A	GRCh37
NC_000002.10:g.237909762G>A	NCBI36
NG_008676.1:g.82828C>T , LRG_473:g.82828C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1365C>T
ENST00000353578.9:c.8102C>T	ENSP00000315873.4:p.Pro2701Leu
ENST00000682957.1:c.847C>T
ENST00000684508.1:n.987C>T
ENST00000295550.9:c.8720C>T MANE Select	ENSP00000295550.4:p.Pro2907Leu
ENST00000295550.8:c.8720C>T	ENSP00000295550.4:p.Pro2907Leu
ENST00000347401.7:c.6896C>T	ENSP00000315609.4:p.Pro2299Leu
ENST00000353578.8:c.8102C>T	ENSP00000315873.4:p.Pro2701Leu
ENST00000409809.5:c.8102C>T	ENSP00000386844.1:p.Pro2701Leu
ENST00000472056.5:c.6899C>T	ENSP00000418285.1:p.Pro2300Leu
ENST00000491769.1:n.5162C>T
NM_004369.3:c.8720C>T , LRG_473t1:c.8720C>T	NP_004360.2:p.Pro2907Leu
NM_057166.4:c.6899C>T	NP_476507.3:p.Pro2300Leu
NM_057167.3:c.8102C>T	NP_476508.2:p.Pro2701Leu
XM_005246065.1:c.8120C>T	XP_005246122.1:p.Pro2707Leu
XM_005246066.1:c.7499C>T	XP_005246123.1:p.Pro2500Leu
XM_006712253.1:c.8219C>T	XP_006712316.1:p.Pro2740Leu
XM_011510574.1:c.8717C>T	XP_011508876.1:p.Pro2906Leu
XM_011510575.1:c.6314C>T	XP_011508877.1:p.Pro2105Leu
XM_017003304.1:c.6314C>T	XP_016858793.1:p.Pro2105Leu
XM_024452684.1:c.7499C>T	XP_024308452.1:p.Pro2500Leu
NM_004369.4:c.8720C>T MANE Select	NP_004360.2:p.Pro2907Leu
NM_057166.5:c.6899C>T	NP_476507.3:p.Pro2300Leu
NM_057167.4:c.8102C>T	NP_476508.2:p.Pro2701Leu