Canonical Allele Identifier: CA351194431

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237340480-G-C
• MyVariant Identifiers: chr2:g.238249123G>C (hg19) ; chr2:g.237340480G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340480G>C , CM000664.2:g.237340480G>C	GRCh38
NC_000002.11:g.238249123G>C , CM000664.1:g.238249123G>C	GRCh37
NC_000002.10:g.237913862G>C	NCBI36
NG_008676.1:g.78728C>G , LRG_473:g.78728C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1081C>G
ENST00000353578.9:c.7818C>G	ENSP00000315873.4:p.Phe2606Leu
ENST00000682957.1:c.439C>G
ENST00000684508.1:n.703C>G
ENST00000295550.9:c.8436C>G MANE Select	ENSP00000295550.4:p.Phe2812Leu
ENST00000295550.8:c.8436C>G	ENSP00000295550.4:p.Phe2812Leu
ENST00000347401.7:c.6612C>G	ENSP00000315609.4:p.Phe2204Leu
ENST00000353578.8:c.7818C>G	ENSP00000315873.4:p.Phe2606Leu
ENST00000409809.5:c.7818C>G	ENSP00000386844.1:p.Phe2606Leu
ENST00000468792.1:n.123C>G
ENST00000472056.5:c.6615C>G	ENSP00000418285.1:p.Phe2205Leu
ENST00000491769.1:n.4878C>G
NM_004369.3:c.8436C>G , LRG_473t1:c.8436C>G	NP_004360.2:p.Phe2812Leu
NM_057166.4:c.6615C>G	NP_476507.3:p.Phe2205Leu
NM_057167.3:c.7818C>G	NP_476508.2:p.Phe2606Leu
XM_005246065.1:c.7836C>G	XP_005246122.1:p.Phe2612Leu
XM_005246066.1:c.7215C>G	XP_005246123.1:p.Phe2405Leu
XM_006712253.1:c.7935C>G	XP_006712316.1:p.Phe2645Leu
XM_011510574.1:c.8433C>G	XP_011508876.1:p.Phe2811Leu
XM_011510575.1:c.6030C>G	XP_011508877.1:p.Phe2010Leu
XM_017003304.1:c.6030C>G	XP_016858793.1:p.Phe2010Leu
XM_024452684.1:c.7215C>G	XP_024308452.1:p.Phe2405Leu
NM_004369.4:c.8436C>G MANE Select	NP_004360.2:p.Phe2812Leu
NM_057166.5:c.6615C>G	NP_476507.3:p.Phe2205Leu
NM_057167.4:c.7818C>G	NP_476508.2:p.Phe2606Leu