Canonical Allele Identifier: CA278676828

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433348
• ClinVar RCV Id: RCV000499230
• dbSNP Id: rs72664288
• gnomAD v4: 16-16154788-T-G
• MyVariant Identifiers: chr16:g.16248645T>G (hg19) ; chr16:g.16154788T>G (hg38)
• PubMed: PMID:12384774

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154788T>G , CM000678.2:g.16154788T>G	GRCh38
NC_000016.9:g.16248645T>G , CM000678.1:g.16248645T>G	GRCh37
NC_000016.8:g.16156146T>G	NCBI36
NG_007558.2:g.73684A>C
NG_007558.3:g.73830A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.911A>C
ENST00000622290.5:c.*220A>C	ENSP00000483331.2:n.*220A>C
ENST00000205557.12:c.4048A>C MANE Select	ENSP00000205557.7:p.Ile1350Leu
ENST00000640696.1:c.862A>C	ENSP00000492197.1:p.Ile288Leu
ENST00000205557.11:c.4048A>C	ENSP00000205557.7:p.Ile1350Leu
ENST00000456970.6:c.3673A>C	ENSP00000405002.2:n.3673A>C
ENST00000576204.5:n.911A>C
ENST00000622290.4:c.*1257A>C	ENSP00000483331.1:n.*1257A>C
NM_001171.5:c.4048A>C	NP_001162.4:p.Ile1350Leu
XM_011522479.1:c.4015A>C	XP_011520781.1:p.Ile1339Leu
XM_011522480.1:c.3706A>C	XP_011520782.1:p.Ile1236Leu
XM_011522481.1:c.3706A>C	XP_011520783.1:p.Ile1236Leu
XR_933134.1:n.539-4993T>G
NM_001351800.1:c.3706A>C	NP_001338729.1:p.Ile1236Leu
NR_147784.1:n.3710A>C
XM_011522479.2:c.4015A>C	XP_011520781.1:p.Ile1339Leu
XM_011522481.3:c.3706A>C	XP_011520783.1:p.Ile1236Leu
XM_017023212.1:c.3880A>C	XP_016878701.1:p.Ile1294Leu
XM_024450261.1:c.4084A>C	XP_024306029.1:p.Ile1362Leu
NM_001171.6:c.4048A>C MANE Select	NP_001162.5:p.Ile1350Leu