Canonical Allele Identifier: CA7925368

Gene: ABCC6

Linked Data

• dbSNP Id: rs747664194
• ExAC: 16:16248823 C / T
• gnomAD v2: 16-16248823-C-T
• gnomAD v4: 16-16154966-C-T
• MyVariant Identifiers: chr16:g.16248823C>T (hg19) ; chr16:g.16154966C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154966C>T , CM000678.2:g.16154966C>T	GRCh38
NC_000016.9:g.16248823C>T , CM000678.1:g.16248823C>T	GRCh37
NC_000016.8:g.16156324C>T	NCBI36
NG_007558.2:g.73506G>A
NG_007558.3:g.73652G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.811G>A
ENST00000622290.5:c.*120G>A	ENSP00000483331.2:n.*120G>A
ENST00000205557.12:c.3948G>A MANE Select	ENSP00000205557.7:p.Gln1316=
ENST00000640696.1:c.762G>A	ENSP00000492197.1:p.Gln254=
ENST00000205557.11:c.3948G>A	ENSP00000205557.7:p.Gln1316=
ENST00000456970.6:c.3573G>A	ENSP00000405002.2:n.3573G>A
ENST00000576204.5:n.811G>A
ENST00000622290.4:c.*1157G>A	ENSP00000483331.1:n.*1157G>A
NM_001171.5:c.3948G>A	NP_001162.4:p.Gln1316=
XM_011522479.1:c.3915G>A	XP_011520781.1:p.Gln1305=
XM_011522480.1:c.3606G>A	XP_011520782.1:p.Gln1202=
XM_011522481.1:c.3606G>A	XP_011520783.1:p.Gln1202=
XR_932836.1:n.4246G>A
XR_932837.1:n.3984G>A
XR_932838.1:n.4047G>A
XR_933134.1:n.539-4815C>T
NM_001351800.1:c.3606G>A	NP_001338729.1:p.Gln1202=
NR_147784.1:n.3610G>A
XM_011522479.2:c.3915G>A	XP_011520781.1:p.Gln1305=
XM_011522481.3:c.3606G>A	XP_011520783.1:p.Gln1202=
XM_017023212.1:c.3780G>A	XP_016878701.1:p.Gln1260=
XM_024450261.1:c.3984G>A	XP_024306029.1:p.Gln1328=
XR_932837.3:n.3929G>A
NM_001171.6:c.3948G>A MANE Select	NP_001162.5:p.Gln1316=