Canonical Allele Identifier: CA7926398

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 2417848
• ClinVar RCV Id: RCV003117957
• dbSNP Id: rs759542954
• ExAC: 16:16291974 G / A
• gnomAD v2: 16-16291974-G-A
• gnomAD v3: 16-16198117-G-A
• gnomAD v4: 16-16198117-G-A
• MyVariant Identifiers: chr16:g.16291974G>A (hg19) ; chr16:g.16198117G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16198117G>A , CM000678.2:g.16198117G>A	GRCh38
NC_000016.9:g.16291974G>A , CM000678.1:g.16291974G>A	GRCh37
NC_000016.8:g.16199475G>A	NCBI36
NG_007558.2:g.30355C>T
NG_007558.3:g.30501C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.1242C>T	ENSP00000507301.1:p.Ser414=
ENST00000622290.5:c.1242C>T	ENSP00000483331.2:p.Ser414=
ENST00000205557.12:c.1242C>T MANE Select	ENSP00000205557.7:p.Ser414=
ENST00000205557.11:c.1242C>T	ENSP00000205557.7:p.Ser414=
ENST00000456970.6:c.1242C>T	ENSP00000405002.2:p.Ser414=
ENST00000574094.5:n.1338C>T
ENST00000622290.4:c.1242C>T	ENSP00000483331.1:p.Ser414=
NM_001171.5:c.1242C>T	NP_001162.4:p.Ser414=
XM_011522479.1:c.1242C>T	XP_011520781.1:p.Ser414=
XM_011522480.1:c.900C>T	XP_011520782.1:p.Ser300=
XM_011522481.1:c.900C>T	XP_011520783.1:p.Ser300=
XM_011522482.1:c.1242C>T	XP_011520784.1:p.Ser414=
XR_932836.1:n.1477C>T
XR_932837.1:n.1478C>T
XR_932838.1:n.1478C>T
NM_001351800.1:c.900C>T	NP_001338729.1:p.Ser300=
NR_147784.1:n.1279C>T
XM_011522479.2:c.1242C>T	XP_011520781.1:p.Ser414=
XM_011522481.3:c.900C>T	XP_011520783.1:p.Ser300=
XM_011522482.3:c.1242C>T	XP_011520784.1:p.Ser414=
XM_017023212.1:c.1242C>T	XP_016878701.1:p.Ser414=
XM_017023214.1:c.1242C>T	XP_016878703.1:p.Ser414=
XM_024450261.1:c.1278C>T	XP_024306029.1:p.Ser426=
XR_932836.2:n.1423C>T
XR_932837.3:n.1423C>T
XR_932838.3:n.1423C>T
NM_001171.6:c.1242C>T MANE Select	NP_001162.5:p.Ser414=