Canonical Allele Identifier: CA7926064

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433445
• ClinVar RCV Id: RCV000499146 ; RCV001865584
• dbSNP Id: rs72653780
• ExAC: 16:16276744 C / T
• gnomAD v2: 16-16276744-C-T
• gnomAD v4: 16-16182887-C-T
• COSMIC: COSM3887989
• MyVariant Identifiers: chr16:g.16276744C>T (hg19) ; chr16:g.16182887C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16182887C>T , CM000678.2:g.16182887C>T	GRCh38
NC_000016.9:g.16276744C>T , CM000678.1:g.16276744C>T	GRCh37
NC_000016.8:g.16184245C>T	NCBI36
NG_007558.2:g.45585G>A
NG_007558.3:g.45731G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.1987G>A	ENSP00000483331.2:p.Gly663Ser
ENST00000205557.12:c.1987G>A MANE Select	ENSP00000205557.7:p.Gly663Ser
ENST00000205557.11:c.1987G>A	ENSP00000205557.7:p.Gly663Ser
ENST00000456970.6:c.1987G>A	ENSP00000405002.2:p.Gly663Ser
ENST00000574094.5:n.2040-962G>A
ENST00000622290.4:c.1987G>A	ENSP00000483331.1:p.Gly663Ser
NM_001171.5:c.1987G>A	NP_001162.4:p.Gly663Ser
XM_011522479.1:c.1987G>A	XP_011520781.1:p.Gly663Ser
XM_011522480.1:c.1645G>A	XP_011520782.1:p.Gly549Ser
XM_011522481.1:c.1645G>A	XP_011520783.1:p.Gly549Ser
XM_011522482.1:c.1987G>A	XP_011520784.1:p.Gly663Ser
XR_932836.1:n.2222G>A
XR_932837.1:n.2223G>A
XR_932838.1:n.2223G>A
NM_001351800.1:c.1645G>A	NP_001338729.1:p.Gly549Ser
NR_147784.1:n.2024G>A
XM_011522479.2:c.1987G>A	XP_011520781.1:p.Gly663Ser
XM_011522481.3:c.1645G>A	XP_011520783.1:p.Gly549Ser
XM_011522482.3:c.1987G>A	XP_011520784.1:p.Gly663Ser
XM_017023212.1:c.1987G>A	XP_016878701.1:p.Gly663Ser
XM_017023214.1:c.1987G>A	XP_016878703.1:p.Gly663Ser
XM_024450261.1:c.2023G>A	XP_024306029.1:p.Gly675Ser
XR_932836.2:n.2168G>A
XR_932837.3:n.2168G>A
XR_932838.3:n.2168G>A
NM_001171.6:c.1987G>A MANE Select	NP_001162.5:p.Gly663Ser