Canonical Allele Identifier: CA2188978

Gene: COL6A3

Linked Data

• dbSNP Id: rs748003678
• ExAC: 2:238280470 A / G
• gnomAD v2: 2-238280470-A-G
• gnomAD v4: 2-237371827-A-G
• MyVariant Identifiers: chr2:g.238280470A>G (hg19) ; chr2:g.237371827A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237371827A>G , CM000664.2:g.237371827A>G	GRCh38
NC_000002.11:g.238280470A>G , CM000664.1:g.238280470A>G	GRCh37
NC_000002.10:g.237945209A>G	NCBI36
NG_008676.1:g.47381T>C , LRG_473:g.47381T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.3572T>C	ENSP00000315873.4:p.Leu1191Pro
ENST00000684597.1:c.21T>C
ENST00000295550.9:c.4190T>C MANE Select	ENSP00000295550.4:p.Leu1397Pro
ENST00000295550.8:c.4190T>C	ENSP00000295550.4:p.Leu1397Pro
ENST00000347401.7:c.2369T>C	ENSP00000315609.4:p.Leu790Pro
ENST00000353578.8:c.3572T>C	ENSP00000315873.4:p.Leu1191Pro
ENST00000392003.6:c.2969T>C	ENSP00000375860.2:p.Leu990Pro
ENST00000392004.7:c.3572T>C	ENSP00000375861.3:p.Leu1191Pro
ENST00000409809.5:c.3572T>C	ENSP00000386844.1:p.Leu1191Pro
ENST00000472056.5:c.2369T>C	ENSP00000418285.1:p.Leu790Pro
NM_004369.3:c.4190T>C , LRG_473t1:c.4190T>C	NP_004360.2:p.Leu1397Pro
NM_057164.4:c.2969T>C	NP_476505.3:p.Leu990Pro
NM_057165.4:c.3572T>C	NP_476506.3:p.Leu1191Pro
NM_057166.4:c.2369T>C	NP_476507.3:p.Leu790Pro
NM_057167.3:c.3572T>C	NP_476508.2:p.Leu1191Pro
XM_005246065.1:c.3590T>C	XP_005246122.1:p.Leu1197Pro
XM_005246066.1:c.2969T>C	XP_005246123.1:p.Leu990Pro
XM_006712253.1:c.4190T>C	XP_006712316.1:p.Leu1397Pro
XM_011510574.1:c.4190T>C	XP_011508876.1:p.Leu1397Pro
XM_011510575.1:c.1784T>C	XP_011508877.1:p.Leu595Pro
XM_017003304.1:c.1784T>C	XP_016858793.1:p.Leu595Pro
XM_024452684.1:c.2969T>C	XP_024308452.1:p.Leu990Pro
NM_004369.4:c.4190T>C MANE Select	NP_004360.2:p.Leu1397Pro
NM_057164.5:c.2969T>C	NP_476505.3:p.Leu990Pro
NM_057165.5:c.3572T>C	NP_476506.3:p.Leu1191Pro
NM_057166.5:c.2369T>C	NP_476507.3:p.Leu790Pro
NM_057167.4:c.3572T>C	NP_476508.2:p.Leu1191Pro