Canonical Allele Identifier: CA7925744

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1674809
• ClinVar RCV Id: RCV002208534
• dbSNP Id: rs748551497
• ExAC: 16:16263564 A / G
• gnomAD v2: 16-16263564-A-G
• gnomAD v4: 16-16169707-A-G
• MyVariant Identifiers: chr16:g.16263564A>G (hg19) ; chr16:g.16169707A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169707A>G , CM000678.2:g.16169707A>G	GRCh38
NC_000016.9:g.16263564A>G , CM000678.1:g.16263564A>G	GRCh37
NC_000016.8:g.16171065A>G	NCBI36
NG_007558.2:g.58765T>C
NG_007558.3:g.58911T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2934T>C	ENSP00000483331.2:p.Gly978=
ENST00000205557.12:c.2934T>C MANE Select	ENSP00000205557.7:p.Gly978=
ENST00000205557.11:c.2934T>C	ENSP00000205557.7:p.Gly978=
ENST00000456970.6:c.2759T>C	ENSP00000405002.2:n.2759T>C
ENST00000622290.4:c.*143T>C	ENSP00000483331.1:n.*143T>C
NM_001171.5:c.2934T>C	NP_001162.4:p.Gly978=
XM_011522479.1:c.2901T>C	XP_011520781.1:p.Gly967=
XM_011522480.1:c.2592T>C	XP_011520782.1:p.Gly864=
XM_011522481.1:c.2592T>C	XP_011520783.1:p.Gly864=
XR_932836.1:n.3169T>C
XR_932837.1:n.3170T>C
XR_932838.1:n.3170T>C
NM_001351800.1:c.2592T>C	NP_001338729.1:p.Gly864=
NR_147784.1:n.2796T>C
XM_011522479.2:c.2901T>C	XP_011520781.1:p.Gly967=
XM_011522481.3:c.2592T>C	XP_011520783.1:p.Gly864=
XM_017023212.1:c.2766T>C	XP_016878701.1:p.Gly922=
XM_017023214.1:c.2934T>C	XP_016878703.1:p.Gly978=
XM_024450261.1:c.2970T>C	XP_024306029.1:p.Gly990=
XR_932836.2:n.3115T>C
XR_932837.3:n.3115T>C
XR_932838.3:n.3115T>C
NM_001171.6:c.2934T>C MANE Select	NP_001162.5:p.Gly978=