Canonical Allele Identifier: CA7925797

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 710345
• ClinVar RCV Id: RCV002487930 ; RCV001700332 ; RCV004530907 ; RCV000881900
• dbSNP Id: rs61731973
• ExAC: 16:16267147 G / A
• gnomAD v2: 16-16267147-G-A
• gnomAD v3: 16-16173290-G-A
• gnomAD v4: 16-16173290-G-A
• MyVariant Identifiers: chr16:g.16267147G>A (hg19) ; chr16:g.16173290G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16173290G>A , CM000678.2:g.16173290G>A	GRCh38
NC_000016.9:g.16267147G>A , CM000678.1:g.16267147G>A	GRCh37
NC_000016.8:g.16174648G>A	NCBI36
NG_007558.2:g.55182C>T
NG_007558.3:g.55328C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2781C>T	ENSP00000483331.2:p.Tyr927=
ENST00000205557.12:c.2781C>T MANE Select	ENSP00000205557.7:p.Tyr927=
ENST00000205557.11:c.2781C>T	ENSP00000205557.7:p.Tyr927=
ENST00000456970.6:c.2606C>T	ENSP00000405002.2:p.Thr869Met
ENST00000576683.1:n.268C>T
ENST00000622290.4:c.2606C>T	ENSP00000483331.1:p.Thr869Met
NM_001171.5:c.2781C>T	NP_001162.4:p.Tyr927=
XM_011522479.1:c.2748C>T	XP_011520781.1:p.Tyr916=
XM_011522480.1:c.2439C>T	XP_011520782.1:p.Tyr813=
XM_011522481.1:c.2439C>T	XP_011520783.1:p.Tyr813=
XR_932836.1:n.3016C>T
XR_932837.1:n.3017C>T
XR_932838.1:n.3017C>T
NM_001351800.1:c.2439C>T	NP_001338729.1:p.Tyr813=
NR_147784.1:n.2643C>T
XM_011522479.2:c.2748C>T	XP_011520781.1:p.Tyr916=
XM_011522481.3:c.2439C>T	XP_011520783.1:p.Tyr813=
XM_017023212.1:c.2613C>T	XP_016878701.1:p.Tyr871=
XM_017023214.1:c.2781C>T	XP_016878703.1:p.Tyr927=
XM_024450261.1:c.2817C>T	XP_024306029.1:p.Tyr939=
XR_932836.2:n.2962C>T
XR_932837.3:n.2962C>T
XR_932838.3:n.2962C>T
NM_001171.6:c.2781C>T MANE Select	NP_001162.5:p.Tyr927=