Canonical Allele Identifier: CA67829661

Gene: COL6A3

Linked Data

• dbSNP Id: rs924964819
• gnomAD v3: 2-237334884-T-A
• gnomAD v4: 2-237334884-T-A
• MyVariant Identifiers: chr2:g.238243527T>A (hg19) ; chr2:g.237334884T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334884T>A , CM000664.2:g.237334884T>A	GRCh38
NC_000002.11:g.238243527T>A , CM000664.1:g.238243527T>A	GRCh37
NC_000002.10:g.237908266T>A	NCBI36
NG_008676.1:g.84324A>T , LRG_473:g.84324A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.1610+1251A>T
ENST00000353578.9:c.8353A>T	ENSP00000315873.4:p.Met2785Leu
ENST00000682957.1:c.1098A>T
ENST00000295550.9:c.8971A>T MANE Select	ENSP00000295550.4:p.Met2991Leu
ENST00000295550.8:c.8971A>T	ENSP00000295550.4:p.Met2991Leu
ENST00000347401.7:c.7147A>T	ENSP00000315609.4:p.Met2383Leu
ENST00000353578.8:c.8353A>T	ENSP00000315873.4:p.Met2785Leu
ENST00000409809.5:c.8353A>T	ENSP00000386844.1:p.Met2785Leu
ENST00000472056.5:c.7150A>T	ENSP00000418285.1:p.Met2384Leu
ENST00000491769.1:n.5413A>T
NM_004369.3:c.8971A>T , LRG_473t1:c.8971A>T	NP_004360.2:p.Met2991Leu
NM_057166.4:c.7150A>T	NP_476507.3:p.Met2384Leu
NM_057167.3:c.8353A>T	NP_476508.2:p.Met2785Leu
XM_005246065.1:c.8371A>T	XP_005246122.1:p.Met2791Leu
XM_005246066.1:c.7750A>T	XP_005246123.1:p.Met2584Leu
XM_006712253.1:c.8470A>T	XP_006712316.1:p.Met2824Leu
XM_011510574.1:c.8968A>T	XP_011508876.1:p.Met2990Leu
XM_011510575.1:c.6565A>T	XP_011508877.1:p.Met2189Leu
XM_017003304.1:c.6565A>T	XP_016858793.1:p.Met2189Leu
XM_024452684.1:c.7750A>T	XP_024308452.1:p.Met2584Leu
NM_004369.4:c.8971A>T MANE Select	NP_004360.2:p.Met2991Leu
NM_057166.5:c.7150A>T	NP_476507.3:p.Met2384Leu
NM_057167.4:c.8353A>T	NP_476508.2:p.Met2785Leu