Canonical Allele Identifier: CA7925242

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 2151287
• ClinVar RCV Id: RCV003061261
• dbSNP Id: rs59588658
• ExAC: 16:16244586 G / A
• gnomAD v2: 16-16244586-G-A
• gnomAD v3: 16-16150729-G-A
• gnomAD v4: 16-16150729-G-A
• MyVariant Identifiers: chr16:g.16244586G>A (hg19) ; chr16:g.16150729G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150729G>A , CM000678.2:g.16150729G>A	GRCh38
NC_000016.9:g.16244586G>A , CM000678.1:g.16244586G>A	GRCh37
NC_000016.8:g.16152087G>A	NCBI36
NG_007558.2:g.77743C>T
NG_007558.3:g.77889C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*424C>T	ENSP00000483331.2:n.*424C>T
ENST00000205557.12:c.4252C>T MANE Select	ENSP00000205557.7:p.Arg1418Trp
ENST00000640696.1:c.1066C>T	ENSP00000492197.1:p.Arg356Trp
ENST00000205557.11:c.4252C>T	ENSP00000205557.7:p.Arg1418Trp
ENST00000456970.6:c.3877C>T	ENSP00000405002.2:n.3877C>T
ENST00000576204.5:n.1115C>T
ENST00000622290.4:c.*1461C>T	ENSP00000483331.1:n.*1461C>T
NM_001171.5:c.4252C>T	NP_001162.4:p.Arg1418Trp
XM_011522479.1:c.4219C>T	XP_011520781.1:p.Arg1407Trp
XM_011522480.1:c.3910C>T	XP_011520782.1:p.Arg1304Trp
XM_011522481.1:c.3910C>T	XP_011520783.1:p.Arg1304Trp
XR_933134.1:n.538+6439G>A
NM_001351800.1:c.3910C>T	NP_001338729.1:p.Arg1304Trp
NR_147784.1:n.3914C>T
XM_011522479.2:c.4219C>T	XP_011520781.1:p.Arg1407Trp
XM_011522481.3:c.3910C>T	XP_011520783.1:p.Arg1304Trp
XM_017023212.1:c.4084C>T	XP_016878701.1:p.Arg1362Trp
XM_024450261.1:c.4288C>T	XP_024306029.1:p.Arg1430Trp
NM_001171.6:c.4252C>T MANE Select	NP_001162.5:p.Arg1418Trp