Canonical Allele Identifier: CA2187774

Gene: COL6A3

Linked Data

• dbSNP Id: rs759479369
• ExAC: 2:238253076 C / A
• gnomAD v2: 2-238253076-C-A
• gnomAD v4: 2-237344433-C-A
• MyVariant Identifiers: chr2:g.238253076C>A (hg19) ; chr2:g.237344433C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344433C>A , CM000664.2:g.237344433C>A	GRCh38
NC_000002.11:g.238253076C>A , CM000664.1:g.238253076C>A	GRCh37
NC_000002.10:g.237917815C>A	NCBI36
NG_008676.1:g.74775G>T , LRG_473:g.74775G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.230G>T
ENST00000353578.9:c.6967G>T	ENSP00000315873.4:p.Ala2323Ser
ENST00000295550.9:c.7585G>T MANE Select	ENSP00000295550.4:p.Ala2529Ser
ENST00000295550.8:c.7585G>T	ENSP00000295550.4:p.Ala2529Ser
ENST00000347401.7:c.5761G>T	ENSP00000315609.4:p.Ala1921Ser
ENST00000353578.8:c.6967G>T	ENSP00000315873.4:p.Ala2323Ser
ENST00000409809.5:c.6967G>T	ENSP00000386844.1:p.Ala2323Ser
ENST00000472056.5:c.5764G>T	ENSP00000418285.1:p.Ala1922Ser
ENST00000491769.1:n.1839G>T
NM_004369.3:c.7585G>T , LRG_473t1:c.7585G>T	NP_004360.2:p.Ala2529Ser
NM_057166.4:c.5764G>T	NP_476507.3:p.Ala1922Ser
NM_057167.3:c.6967G>T	NP_476508.2:p.Ala2323Ser
XM_005246065.1:c.6985G>T	XP_005246122.1:p.Ala2329Ser
XM_005246066.1:c.6364G>T	XP_005246123.1:p.Ala2122Ser
XM_006712253.1:c.7084G>T	XP_006712316.1:p.Ala2362Ser
XM_011510574.1:c.7582G>T	XP_011508876.1:p.Ala2528Ser
XM_011510575.1:c.5179G>T	XP_011508877.1:p.Ala1727Ser
XM_017003304.1:c.5179G>T	XP_016858793.1:p.Ala1727Ser
XM_024452684.1:c.6364G>T	XP_024308452.1:p.Ala2122Ser
NM_004369.4:c.7585G>T MANE Select	NP_004360.2:p.Ala2529Ser
NM_057166.5:c.5764G>T	NP_476507.3:p.Ala1922Ser
NM_057167.4:c.6967G>T	NP_476508.2:p.Ala2323Ser