Canonical Allele Identifier: CA3892023

Gene: COL12A1

Linked Data

• ClinVar Variation Id: 259356
• ClinVar RCV Id: RCV000248918 ; RCV000488209 ; RCV001082633 ; RCV000987739 ; RCV002519921
• dbSNP Id: rs41266761
• ExAC: 6:75797391 C / T
• gnomAD v2: 6-75797391-C-T
• gnomAD v3: 6-75087675-C-T
• gnomAD v4: 6-75087675-C-T
• MyVariant Identifiers: chr6:g.75797391C>T (hg19) ; chr6:g.75087675C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75087675C>T , CM000668.2:g.75087675C>T	GRCh38
NC_000006.11:g.75797391C>T , CM000668.1:g.75797391C>T	GRCh37
NC_000006.10:g.75854111C>T	NCBI36
NG_042181.1:g.123233G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322507.13:c.9083G>A MANE Select	ENSP00000325146.8:p.Arg3028His
ENST00000680981.1:n.492G>A
ENST00000681086.1:n.866G>A
ENST00000322507.12:c.9083G>A	ENSP00000325146.8:p.Arg3028His
ENST00000345356.10:c.5591G>A	ENSP00000305147.9:p.Arg1864His
ENST00000416123.6:c.8855G>A	ENSP00000412864.2:p.Arg2952His
ENST00000425443.6:c.1997G>A	ENSP00000399812.2:p.Arg666His
ENST00000483888.6:c.9071G>A	ENSP00000421216.1:p.Arg3024His
ENST00000615798.4:c.5516G>A	ENSP00000483232.1:p.Arg1839His
NM_004370.5:c.9083G>A	NP_004361.3:p.Arg3028His
NM_080645.2:c.5591G>A	NP_542376.2:p.Arg1864His
XM_011535434.1:c.9083G>A	XP_011533736.1:p.Arg3028His
XM_011535435.1:c.8810G>A	XP_011533737.1:p.Arg2937His
XM_011535436.1:c.5591G>A	XP_011533738.1:p.Arg1864His
XM_011535436.2:c.5591G>A	XP_011533738.1:p.Arg1864His
XM_017010252.2:c.9047G>A	XP_016865741.1:p.Arg3016His
NM_004370.6:c.9083G>A MANE Select	NP_004361.3:p.Arg3028His
NM_080645.3:c.5591G>A	NP_542376.2:p.Arg1864His