Canonical Allele Identifier: CA3894086

Gene: COL12A1

Linked Data

• ClinVar Variation Id: 542480
• ClinVar RCV Id: RCV000652908 ; RCV002466556
• dbSNP Id: rs764241362
• ExAC: 6:75890831 T / C
• gnomAD v2: 6-75890831-T-C
• gnomAD v3: 6-75181115-T-C
• gnomAD v4: 6-75181115-T-C
• MyVariant Identifiers: chr6:g.75890831T>C (hg19) ; chr6:g.75181115T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75181115T>C , CM000668.2:g.75181115T>C	GRCh38
NC_000006.11:g.75890831T>C , CM000668.1:g.75890831T>C	GRCh37
NC_000006.10:g.75947551T>C	NCBI36
NG_042181.1:g.29793A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322507.13:c.1988A>G MANE Select	ENSP00000325146.8:p.His663Arg
ENST00000322507.12:c.1988A>G	ENSP00000325146.8:p.His663Arg
ENST00000345356.10:c.73+21605A>G	ENSP00000305147.9:n.73+21605A>G
ENST00000416123.6:c.1988A>G	ENSP00000412864.2:p.His663Arg
ENST00000483888.6:c.1988A>G	ENSP00000421216.1:p.His663Arg
ENST00000486533.1:n.1094A>G
ENST00000615798.4:c.-1580A>G	ENSP00000483232.1:n.-1580A>G
NM_004370.5:c.1988A>G	NP_004361.3:p.His663Arg
NM_080645.2:c.73+21605A>G	NP_542376.2:n.73+21605A>G
XM_011535434.1:c.1988A>G	XP_011533736.1:p.His663Arg
XM_011535435.1:c.1988A>G	XP_011533737.1:p.His663Arg
XM_011535436.1:c.73+21605A>G	XP_011533738.1:n.73+21605A>G
XM_011535436.2:c.73+21605A>G	XP_011533738.1:n.73+21605A>G
XM_017010252.2:c.1952A>G	XP_016865741.1:p.His651Arg
NM_004370.6:c.1988A>G MANE Select	NP_004361.3:p.His663Arg
NM_080645.3:c.73+21605A>G	NP_542376.2:n.73+21605A>G