Canonical Allele Identifier: CA7926577

Gene: ABCC6

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16208768G>A , CM000678.2:g.16208768G>A	GRCh38
NC_000016.9:g.16302625G>A , CM000678.1:g.16302625G>A	GRCh37
NC_000016.8:g.16210126G>A	NCBI36
NG_007558.2:g.19704C>T
NG_007558.3:g.19850C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.754C>T	ENSP00000507301.1:p.Leu252Phe
ENST00000622290.5:c.754C>T	ENSP00000483331.2:p.Leu252Phe
ENST00000205557.12:c.754C>T MANE Select	ENSP00000205557.7:p.Leu252Phe
ENST00000205557.11:c.754C>T	ENSP00000205557.7:p.Leu252Phe
ENST00000456970.6:c.754C>T	ENSP00000405002.2:p.Leu252Phe
ENST00000574094.5:n.850C>T
ENST00000577103.1:c.*621C>T	ENSP00000459243.1:n.*621C>T
ENST00000622290.4:c.754C>T	ENSP00000483331.1:p.Leu252Phe
NM_001171.5:c.754C>T	NP_001162.4:p.Leu252Phe
XM_011522479.1:c.754C>T	XP_011520781.1:p.Leu252Phe
XM_011522480.1:c.412C>T	XP_011520782.1:p.Leu138Phe
XM_011522481.1:c.412C>T	XP_011520783.1:p.Leu138Phe
XM_011522482.1:c.754C>T	XP_011520784.1:p.Leu252Phe
XR_932836.1:n.989C>T
XR_932837.1:n.990C>T
XR_932838.1:n.990C>T
XR_933131.1:n.96+68G>A
XR_933132.1:n.96+68G>A
NM_001351800.1:c.412C>T	NP_001338729.1:p.Leu138Phe
NR_147784.1:n.791C>T
XM_011522479.2:c.754C>T	XP_011520781.1:p.Leu252Phe
XM_011522481.3:c.412C>T	XP_011520783.1:p.Leu138Phe
XM_011522482.3:c.754C>T	XP_011520784.1:p.Leu252Phe
XM_017023212.1:c.754C>T	XP_016878701.1:p.Leu252Phe
XM_017023214.1:c.754C>T	XP_016878703.1:p.Leu252Phe
XM_024450261.1:c.790C>T	XP_024306029.1:p.Leu264Phe
XR_001752340.1:n.104+68G>A
XR_001752341.1:n.104+68G>A
XR_001752342.1:n.104+68G>A
XR_932836.2:n.935C>T
XR_932837.3:n.935C>T
XR_932838.3:n.935C>T
XR_933131.2:n.104+68G>A
XR_933132.2:n.104+68G>A
NM_001171.6:c.754C>T MANE Select	NP_001162.5:p.Leu252Phe