Canonical Allele Identifier: CA278625337

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433344
• ClinVar RCV Id: RCV000499300
• dbSNP Id: rs63750622
• gnomAD v2: 16-16248755-C-A
• gnomAD v4: 16-16154898-C-A
• MyVariant Identifiers: chr16:g.16248755C>A (hg19) ; chr16:g.16154898C>A (hg38)
• PubMed: PMID:16086317

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154898C>A , CM000678.2:g.16154898C>A	GRCh38
NC_000016.9:g.16248755C>A , CM000678.1:g.16248755C>A	GRCh37
NC_000016.8:g.16156256C>A	NCBI36
NG_007558.2:g.73574G>T
NG_007558.3:g.73720G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.879G>T
ENST00000622290.5:c.*188G>T	ENSP00000483331.2:n.*188G>T
ENST00000205557.12:c.4016G>T MANE Select	ENSP00000205557.7:p.Arg1339Leu
ENST00000640696.1:c.830G>T	ENSP00000492197.1:p.Arg277Leu
ENST00000205557.11:c.4016G>T	ENSP00000205557.7:p.Arg1339Leu
ENST00000456970.6:c.3641G>T	ENSP00000405002.2:n.3641G>T
ENST00000576204.5:n.879G>T
ENST00000622290.4:c.*1225G>T	ENSP00000483331.1:n.*1225G>T
NM_001171.5:c.4016G>T	NP_001162.4:p.Arg1339Leu
XM_011522479.1:c.3983G>T	XP_011520781.1:p.Arg1328Leu
XM_011522480.1:c.3674G>T	XP_011520782.1:p.Arg1225Leu
XM_011522481.1:c.3674G>T	XP_011520783.1:p.Arg1225Leu
XR_933134.1:n.539-4883C>A
NM_001351800.1:c.3674G>T	NP_001338729.1:p.Arg1225Leu
NR_147784.1:n.3678G>T
XM_011522479.2:c.3983G>T	XP_011520781.1:p.Arg1328Leu
XM_011522481.3:c.3674G>T	XP_011520783.1:p.Arg1225Leu
XM_017023212.1:c.3848G>T	XP_016878701.1:p.Arg1283Leu
XM_024450261.1:c.4052G>T	XP_024306029.1:p.Arg1351Leu
NM_001171.6:c.4016G>T MANE Select	NP_001162.5:p.Arg1339Leu