Canonical Allele Identifier: CA7925218

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1990355
• ClinVar RCV Id: RCV002800841
• dbSNP Id: rs376955544
• ExAC: 16:16244467 G / C
• gnomAD v2: 16-16244467-G-C
• gnomAD v3: 16-16150610-G-C
• gnomAD v4: 16-16150610-G-C
• MyVariant Identifiers: chr16:g.16244467G>C (hg19) ; chr16:g.16150610G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150610G>C , CM000678.2:g.16150610G>C	GRCh38
NC_000016.9:g.16244467G>C , CM000678.1:g.16244467G>C	GRCh37
NC_000016.8:g.16151968G>C	NCBI36
NG_007558.2:g.77862C>G
NG_007558.3:g.78008C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.*543C>G	ENSP00000483331.2:n.*543C>G
ENST00000205557.12:c.4371C>G MANE Select	ENSP00000205557.7:p.Ala1457=
ENST00000640696.1:c.1185C>G	ENSP00000492197.1:p.Ala395=
ENST00000205557.11:c.4371C>G	ENSP00000205557.7:p.Ala1457=
ENST00000456970.6:c.3996C>G	ENSP00000405002.2:n.3996C>G
ENST00000576204.5:n.1234C>G
ENST00000622290.4:c.*1580C>G	ENSP00000483331.1:n.*1580C>G
NM_001171.5:c.4371C>G	NP_001162.4:p.Ala1457=
XM_011522479.1:c.4338C>G	XP_011520781.1:p.Ala1446=
XM_011522480.1:c.4029C>G	XP_011520782.1:p.Ala1343=
XM_011522481.1:c.4029C>G	XP_011520783.1:p.Ala1343=
XR_933134.1:n.538+6320G>C
NM_001351800.1:c.4029C>G	NP_001338729.1:p.Ala1343=
NR_147784.1:n.4033C>G
XM_011522479.2:c.4338C>G	XP_011520781.1:p.Ala1446=
XM_011522481.3:c.4029C>G	XP_011520783.1:p.Ala1343=
XM_017023212.1:c.4203C>G	XP_016878701.1:p.Ala1401=
XM_024450261.1:c.4407C>G	XP_024306029.1:p.Ala1469=
NM_001171.6:c.4371C>G MANE Select	NP_001162.5:p.Ala1457=