Canonical Allele Identifier: CA7925749

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1980489
• ClinVar RCV Id: RCV002761380
• dbSNP Id: rs774551826
• ExAC: 16:16263579 G / A
• gnomAD v2: 16-16263579-G-A
• gnomAD v4: 16-16169722-G-A
• MyVariant Identifiers: chr16:g.16263579G>A (hg19) ; chr16:g.16169722G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169722G>A , CM000678.2:g.16169722G>A	GRCh38
NC_000016.9:g.16263579G>A , CM000678.1:g.16263579G>A	GRCh37
NC_000016.8:g.16171080G>A	NCBI36
NG_007558.2:g.58750C>T
NG_007558.3:g.58896C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2919C>T	ENSP00000483331.2:p.Asp973=
ENST00000205557.12:c.2919C>T MANE Select	ENSP00000205557.7:p.Asp973=
ENST00000205557.11:c.2919C>T	ENSP00000205557.7:p.Asp973=
ENST00000456970.6:c.2744C>T	ENSP00000405002.2:n.2744C>T
ENST00000622290.4:c.*128C>T	ENSP00000483331.1:n.*128C>T
NM_001171.5:c.2919C>T	NP_001162.4:p.Asp973=
XM_011522479.1:c.2886C>T	XP_011520781.1:p.Asp962=
XM_011522480.1:c.2577C>T	XP_011520782.1:p.Asp859=
XM_011522481.1:c.2577C>T	XP_011520783.1:p.Asp859=
XR_932836.1:n.3154C>T
XR_932837.1:n.3155C>T
XR_932838.1:n.3155C>T
NM_001351800.1:c.2577C>T	NP_001338729.1:p.Asp859=
NR_147784.1:n.2781C>T
XM_011522479.2:c.2886C>T	XP_011520781.1:p.Asp962=
XM_011522481.3:c.2577C>T	XP_011520783.1:p.Asp859=
XM_017023212.1:c.2751C>T	XP_016878701.1:p.Asp917=
XM_017023214.1:c.2919C>T	XP_016878703.1:p.Asp973=
XM_024450261.1:c.2955C>T	XP_024306029.1:p.Asp985=
XR_932836.2:n.3100C>T
XR_932837.3:n.3100C>T
XR_932838.3:n.3100C>T
NM_001171.6:c.2919C>T MANE Select	NP_001162.5:p.Asp973=