Canonical Allele Identifier: CA3892729

Gene: COL12A1

Linked Data

• ClinVar Variation Id: 542522
• ClinVar RCV Id: RCV000652952 ; RCV001079350
• dbSNP Id: rs151324784
• ExAC: 6:75833783 C / T
• gnomAD v2: 6-75833783-C-T
• gnomAD v3: 6-75124067-C-T
• gnomAD v4: 6-75124067-C-T
• MyVariant Identifiers: chr6:g.75833783C>T (hg19) ; chr6:g.75124067C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75124067C>T , CM000668.2:g.75124067C>T	GRCh38
NC_000006.11:g.75833783C>T , CM000668.1:g.75833783C>T	GRCh37
NC_000006.10:g.75890503C>T	NCBI36
NG_042181.1:g.86841G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322507.13:c.6752G>A MANE Select	ENSP00000325146.8:p.Arg2251His
ENST00000322507.12:c.6752G>A	ENSP00000325146.8:p.Arg2251His
ENST00000345356.10:c.3260G>A	ENSP00000305147.9:p.Arg1087His
ENST00000416123.6:c.6752G>A	ENSP00000412864.2:p.Arg2251His
ENST00000483888.6:c.6752G>A	ENSP00000421216.1:p.Arg2251His
ENST00000615798.4:c.3185G>A	ENSP00000483232.1:p.Arg1062His
NM_004370.5:c.6752G>A	NP_004361.3:p.Arg2251His
NM_080645.2:c.3260G>A	NP_542376.2:p.Arg1087His
XM_011535434.1:c.6752G>A	XP_011533736.1:p.Arg2251His
XM_011535435.1:c.6479G>A	XP_011533737.1:p.Arg2160His
XM_011535436.1:c.3260G>A	XP_011533738.1:p.Arg1087His
XM_011535436.2:c.3260G>A	XP_011533738.1:p.Arg1087His
XM_017010252.2:c.6716G>A	XP_016865741.1:p.Arg2239His
NM_004370.6:c.6752G>A MANE Select	NP_004361.3:p.Arg2251His
NM_080645.3:c.3260G>A	NP_542376.2:p.Arg1087His