Canonical Allele Identifier: CA7925241

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433356
• ClinVar RCV Id: RCV000499009 ; RCV000658742
• dbSNP Id: rs63751262
• ExAC: 16:16244585 C / T
• gnomAD v2: 16-16244585-C-T
• gnomAD v3: 16-16150728-C-T
• gnomAD v4: 16-16150728-C-T
• MyVariant Identifiers: chr16:g.16244585C>T (hg19) ; chr16:g.16150728C>T (hg38)
• PubMed: PMID:16086762

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150728C>T , CM000678.2:g.16150728C>T	GRCh38
NC_000016.9:g.16244585C>T , CM000678.1:g.16244585C>T	GRCh37
NC_000016.8:g.16152086C>T	NCBI36
NG_007558.2:g.77744G>A
NG_007558.3:g.77890G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*425G>A	ENSP00000483331.2:n.*425G>A
ENST00000205557.12:c.4253G>A MANE Select	ENSP00000205557.7:p.Arg1418Gln
ENST00000640696.1:c.1067G>A	ENSP00000492197.1:p.Arg356Gln
ENST00000205557.11:c.4253G>A	ENSP00000205557.7:p.Arg1418Gln
ENST00000456970.6:c.3878G>A	ENSP00000405002.2:n.3878G>A
ENST00000576204.5:n.1116G>A
ENST00000622290.4:c.*1462G>A	ENSP00000483331.1:n.*1462G>A
NM_001171.5:c.4253G>A	NP_001162.4:p.Arg1418Gln
XM_011522479.1:c.4220G>A	XP_011520781.1:p.Arg1407Gln
XM_011522480.1:c.3911G>A	XP_011520782.1:p.Arg1304Gln
XM_011522481.1:c.3911G>A	XP_011520783.1:p.Arg1304Gln
XR_933134.1:n.538+6438C>T
NM_001351800.1:c.3911G>A	NP_001338729.1:p.Arg1304Gln
NR_147784.1:n.3915G>A
XM_011522479.2:c.4220G>A	XP_011520781.1:p.Arg1407Gln
XM_011522481.3:c.3911G>A	XP_011520783.1:p.Arg1304Gln
XM_017023212.1:c.4085G>A	XP_016878701.1:p.Arg1362Gln
XM_024450261.1:c.4289G>A	XP_024306029.1:p.Arg1430Gln
NM_001171.6:c.4253G>A MANE Select	NP_001162.5:p.Arg1418Gln