Canonical Allele Identifier: CA15390640

Gene: MFAP3

Linked Data

• dbSNP Id: rs2033195
• gnomAD v2: 5-153509596-T-C
• gnomAD v3: 5-154130036-T-C
• gnomAD v4: 5-154130036-T-C
• MyVariant Identifiers: chr5:g.153509596T>C (hg19) ; chr5:g.154130036T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.154130036T>C , CM000667.2:g.154130036T>C	GRCh38
NC_000005.9:g.153509596T>C , CM000667.1:g.153509596T>C	GRCh37
NC_000005.8:g.153489789T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000518497.6:n.429+8139T>C
ENST00000520327.6:n.293-19830T>C
ENST00000518497.5:n.429+8139T>C
ENST00000519325.1:n.250-4809T>C
ENST00000519612.5:n.430-4809T>C
ENST00000520327.5:n.293-19830T>C
ENST00000521527.5:n.287-4809T>C