Canonical Allele Identifier: CA7925290

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433352
• ClinVar RCV Id: RCV000499242
• dbSNP Id: rs66913554
• ExAC: 16:16248501 G / A
• gnomAD v2: 16-16248501-G-A
• gnomAD v3: 16-16154644-G-A
• gnomAD v4: 16-16154644-G-A
• MyVariant Identifiers: chr16:g.16248501G>A (hg19) ; chr16:g.16154644G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154644G>A , CM000678.2:g.16154644G>A	GRCh38
NC_000016.9:g.16248501G>A , CM000678.1:g.16248501G>A	GRCh37
NC_000016.8:g.16156002G>A	NCBI36
NG_007558.2:g.73828C>T
NG_007558.3:g.73974C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.*364C>T	ENSP00000483331.2:n.*364C>T
ENST00000205557.12:c.4192C>T MANE Select	ENSP00000205557.7:p.Arg1398Ter
ENST00000640696.1:c.1006C>T	ENSP00000492197.1:p.Arg336Ter
ENST00000205557.11:c.4192C>T	ENSP00000205557.7:p.Arg1398Ter
ENST00000456970.6:c.3817C>T	ENSP00000405002.2:n.3817C>T
ENST00000576204.5:n.1055C>T
ENST00000622290.4:c.*1401C>T	ENSP00000483331.1:n.*1401C>T
NM_001171.5:c.4192C>T	NP_001162.4:p.Arg1398Ter
XM_011522479.1:c.4159C>T	XP_011520781.1:p.Arg1387Ter
XM_011522480.1:c.3850C>T	XP_011520782.1:p.Arg1284Ter
XM_011522481.1:c.3850C>T	XP_011520783.1:p.Arg1284Ter
XR_933134.1:n.539-5137G>A
NM_001351800.1:c.3850C>T	NP_001338729.1:p.Arg1284Ter
NR_147784.1:n.3854C>T
XM_011522479.2:c.4159C>T	XP_011520781.1:p.Arg1387Ter
XM_011522481.3:c.3850C>T	XP_011520783.1:p.Arg1284Ter
XM_017023212.1:c.4024C>T	XP_016878701.1:p.Arg1342Ter
XM_024450261.1:c.4228C>T	XP_024306029.1:p.Arg1410Ter
NM_001171.6:c.4192C>T MANE Select	NP_001162.5:p.Arg1398Ter