Canonical Allele Identifier: CA7925365

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1544704
• ClinVar RCV Id: RCV002165243
• dbSNP Id: rs751220009
• ExAC: 16:16248796 G / A
• gnomAD v2: 16-16248796-G-A
• gnomAD v3: 16-16154939-G-A
• gnomAD v4: 16-16154939-G-A
• MyVariant Identifiers: chr16:g.16248796G>A (hg19) ; chr16:g.16154939G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154939G>A , CM000678.2:g.16154939G>A	GRCh38
NC_000016.9:g.16248796G>A , CM000678.1:g.16248796G>A	GRCh37
NC_000016.8:g.16156297G>A	NCBI36
NG_007558.2:g.73533C>T
NG_007558.3:g.73679C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.838C>T
ENST00000622290.5:c.*147C>T	ENSP00000483331.2:n.*147C>T
ENST00000205557.12:c.3975C>T MANE Select	ENSP00000205557.7:p.Ile1325=
ENST00000640696.1:c.789C>T	ENSP00000492197.1:p.Ile263=
ENST00000205557.11:c.3975C>T	ENSP00000205557.7:p.Ile1325=
ENST00000456970.6:c.3600C>T	ENSP00000405002.2:n.3600C>T
ENST00000576204.5:n.838C>T
ENST00000622290.4:c.*1184C>T	ENSP00000483331.1:n.*1184C>T
NM_001171.5:c.3975C>T	NP_001162.4:p.Ile1325=
XM_011522479.1:c.3942C>T	XP_011520781.1:p.Ile1314=
XM_011522480.1:c.3633C>T	XP_011520782.1:p.Ile1211=
XM_011522481.1:c.3633C>T	XP_011520783.1:p.Ile1211=
XR_933134.1:n.539-4842G>A
NM_001351800.1:c.3633C>T	NP_001338729.1:p.Ile1211=
NR_147784.1:n.3637C>T
XM_011522479.2:c.3942C>T	XP_011520781.1:p.Ile1314=
XM_011522481.3:c.3633C>T	XP_011520783.1:p.Ile1211=
XM_017023212.1:c.3807C>T	XP_016878701.1:p.Ile1269=
XM_024450261.1:c.4011C>T	XP_024306029.1:p.Ile1337=
NM_001171.6:c.3975C>T MANE Select	NP_001162.5:p.Ile1325=